APPROACH TO ATAXIA


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1 : 6/23/2011 1 APPROACH TO ATAXIA
2 : 6/23/2011 2 Definitions Ataxiais the inability to make smooth, accurate and coordinated movements Ataxia can arise from disorders of: ––Cerebellum (most common) ––Sensory pathways (Sensory Ataxia) -- posterior columns, dorsal root ganglia, peripheral nerves ––Frontal lobe lesions via fronto-cerebellar associative fibers
3 : 6/23/2011 3 SENSORY ATAXIA The ataxia of severe sensory neuropathy and of posterior column disease of the spinal cord (sensory ataxia) simulates cerebellar ataxia; presumably this is a result of involvement of the large peripheral spinocerebellar afferent fibers. 1.loss of distal joint, position sense, 2.absence of associated cerebellar signs such as dysarthria or nystagmus, 3.loss of tendon reflexes, and 4.the corrective effects of vision on sensory ataxia. 5.Romberg sign this sign is not found in lesions of the cerebellar hemispheres except that the patient may initially sway with eyes open and a bit more with eyes closed.
4 : 6/23/2011 4
5 : 6/23/2011 5 Vertiginous ataxia Vertiginous ataxia is primarily an ataxia of gait and is distinguished by the obvious complaint of vertigo and listing to one side, past pointing, and rotary nystagmus.
6 : 6/23/2011 6 Nonvertiginous ataxia The nonvertiginous ataxia of gait caused by vestibular paresis (e.g., streptomycin toxicity) has special qualities
7 : 6/23/2011 7 Vertiginous and cerbellar ataxia Vertigo and cerebellar ataxia may be concurrent, as in some patients with a paraneoplastic disease and in those with infarction of the lateral medulla and inferior cerebellum.
8 : 6/23/2011 8 Thalamic ataxia An unusual and transient ataxia of the contralateral limbs occurs acutely after infarction or hemorrhage in the anterior thalamus (thalamic ataxia); in addition to characteristic signs of thalamic damage, patient have accompanying unilateral asterixis.
9 : 6/23/2011 9 PARIETAL LOBE ATAXIA a lesion of the superior parietal lobule (areas 5 and 7 of Brodmann) may rarely result in ataxia of the contralateral limbs
10 : 6/23/2011 10 Frontal lobe ataxia/ Bruns' ataxia Frontal lobe ataxia refers to disturbed coordination due to dysfunction of the contralateral frontal lobe; it may resemble the deficits due to abnormalities of the ipsilateral cerebellar hemisphere. Frontal lobe ataxia results from disease involving the frontopontocerebellar fibers en route to synapse in the pontine nuclei. Pressure on the brainstem by a cerebellar mass lesion may cause corticospinal tract findings that can confuse the picture. Bruns' ataxia refers to a gait disturbance seen primarily in frontal lobe lesions
11 : 6/23/2011 11 Frontal ataxia cerebellar ataxia Frontal lobe ataxia refers to disturbed coordination due to dysfunction of the contralateral frontal lobe; Frontal lobe ataxia results from disease involving the frontopontocerebellar fibers en route to synapse in the pontine nuclei. hyperreflexia, increased tone, and pathologic reflexes; Bruns' ataxia refers to a gait disturbance seen primarily in frontal lobe lesions Ipsilateral cerbellar lesion diminished or pendular reflexes, typically cause hypotonia, and no pathologic reflex Pressure on the brainstem by a cerebellar mass lesion may cause corticospinal tract findings that can confuse the picture
12 : 6/23/2011 12 Ataxia in MFS In the Miller-Fisher syndrome, which is considered to be a variant of acute Guillain-Barré polyneuropathy, sensation is intact or affected only slightly and the severe ataxia and intention tremor are presumably a result of a highly selective peripheral disorder of spinocerebellar nerve fibers.
13 : 6/23/2011 13
14 : 6/23/2011 14 Classifications Congenital – Usually from CNS malformations Acquired – Acute Defined as unsteadiness of walking or of fine motor movement of less than 72hrs duration in a previously well person or child Episodic and/or chronic Rare in children; usually secondary to genetic or metabolic disorder
15 : 6/23/2011 15 Classifications Congenital or acquired Acute or subacute or chronic Familial or non familial AD OR AR OR SPORADIC IPSILATERAL SIGNS OR BILATERAL SIGNS SYMMETRICAL OR ASYMMETRICAL PROGRESSIVE OR SLOWLY PROGRESSIVE, STATIC OR IMPROVING RECURRENCE/EPISODIC A/W HF,CN, P,EP,PERIPHERAL NEUROPATHY FEATURES
16 : 6/23/2011 16 Congenital or acquired
17 : 6/23/2011 17 Congenital CNS Malformations Cerebellar hypoplasia Vermian aplasia Dandy-walker Chiari malformation Joubert’s syndrome GILLESPIE SYNDROME
18 : 6/23/2011 18 ACUTE VS SUBACUTE VS CHRONIC
19 : 6/23/2011 19 symmetrical causes Focal and Ipsilateral Cerebellar Signs
20 : 6/23/2011 20 Acute-transitory Intoxication with alcohol, lithium, barbiturate, phenytoin or other antiepileptics (associated with dysarthria, nystagmus; Diamox-responsive episodic ataxia Childhood hyperammonemias
21 : 6/23/2011 21 Acute and usually reversible Postinfectious, with inflammatory changes in CSF Viral cerebellar encephalitis Myxedema
22 : 6/23/2011 22 Acute-enduring Extreme hyperthermia with coma at onset Intoxication with mercury compounds or toluene (glue sniffing; spray painting; Postanoxic with intention myoclonus Adulterated heroin ("chasing the dragon")
23 : 6/23/2011 23 Subacute (over weeks) Brain tumors such as medulloblastoma, astrocytoma, hemangioblastoma metastasis (usually with headache and papilledema; Alcoholic–nutritional Paraneoplastic, often with opsoclonus and specific anticerebellar antibodies (particularly with breast and ovarian carcinoma; Creutzfeldt-Jakob disease Cerebellar abscess Whipple disease (often with myoclonus and oculomasticatory movements) Sprue (gluten enteropathy) Multiple sclerosis
24 : 6/23/2011 24 Chronic (months to years) Friedreich ataxia and other spinocerebellar degenerations; other hereditary cerebellar degenerations (olivopontocerebellar degenerations; cerebellar cortical degenerations Adult form of fragile X premutation syndrome Hereditary metabolic diseases, often with myoclonus Childhood ataxias, including ataxia telangiectasia, cerebellar agenesis
25 : 6/23/2011 25 SYMMETRICAL VS FOCAL
26 : 6/23/2011 26 progressive, symmetiric reclassified with respect to onset as acute (over hours or days) subacute (weeks or months) or chronic (months of yrs.) Symmetric ataxia
27 : 6/23/2011 27 acute /Reversible ataxia-symmetry intoxication with alcohol, phenytoin, lithium, barbiturates.
28 : 6/23/2011 28 Subacute Symmetrical degeneration of cerebellar vermis- due to combined effect of alcoholism and malnutrition. deficiency of B1 and B12 vitamins, hyponatremia paraneoplastic, CJD,
29 : 6/23/2011 29 Chronic symmetric inherited ataxia – metabolic disorder hypothyroidism, chronic infections meningovascular syphilis
30 : 6/23/2011 30 Focal ataxia acute focal- ischemic infarction, cerebellar hemorrhage - ipsilateral to the injury - may be associated with impaired level of consciousness due to compression or ? ICP ipsilateral pontine sugns (CN, VI and VII palsy) - posterior fossa subdural hematoma, bacterial abcess, primary or metastatic cerebellar tumor. - CT or MRI - most true neurologic emergencies / sudden herniation - acute surgical decompression may be required
31 : 6/23/2011 31 acute or subacute focal cerebellar Vascular: cerebellar infarction, hemorrhage, or subdural hematoma Infectious: cerebellar abscess (positive mass lesion on MRI/CT, positive history in support of lesion)
32 : 6/23/2011 32 subacute focal cerebellar Neoplastic: cerebellar glioma or metastatic tumor (positive for neoplasm on MRI/CT) Demyelinating: multiple sclerosis (history, CSF, and MRI are consistent) AIDS-related multifocal leukoencephalopathy (positive HIV test and CD4+ cell count for AIDS)
33 : 6/23/2011 33 chronic focal Chiari malfo, congenital cyst of posterior fossa (Dandy -Walker syndrome) Stable gliosis secondary to vascular lesion or demyelinating plaque
34 : 6/23/2011 34 IMPROVING VS EPISODIC VS SLOW PROGRESSIVE
35 : 6/23/2011 35 IMPROVING Postinfectious, with inflammatory changes in CSF Viral cerebellar encephalitis VASCULAR CAUSES AND SYNDROMES intoxication with alcohol, phenytoin, lithium, Barbiturates IMPROVING AFTER TREATMENT-TREATABLE ATAXIAS
36 : 6/23/2011 36 PAROXYSMAL OR EPISODIC EA-2- ATAXIA FOR SEVERAL HOURS A/W VERTIGO EA-1 ATAXIA PRECIPITATED BY EXERCISE NOT A/W VERTIGO, WITH MUSCLE MYOKIMIA RIPPLING
37 : 6/23/2011 37 progressive cerebellar syndromes classifications of Greenfield and of Harding, into three main groups: (1) the spinocerebellar ataxias, with unmistakable involvement of the spinal cord (Romberg sign, sensory loss, diminished tendon reflexes, Babinski signs); (2) the pure cerebellar ataxias, with no other associated neurologic disorders; and (3) the complicated cerebellar ataxias, with a variety of pyramidal, extrapyramidal, retinal, optic nerve, oculomotor, auditory, peripheral nerve, and cerebrocortical accompaniments including what is now referred to as multiple system atrophy Focal ataxia Chronic symmetric
38 : 6/23/2011 38 HISTORY OCCUPATION HISTORY THINNER SPRAY PAINTER CHRONIC SOLVENT ABUSE -TOLUENE FARMER EXPOSURE TO MERCURY CONTAINING FUNGICIDES
39 : 6/23/2011 39 PERSONAL HISTORY ALCOHOLIC
40 : 6/23/2011 40
41 : 6/23/2011 41 AGE OF ONSET IN AD ATAXIAS Young adult: SCA-1, SCA-2,SCA-3 childhood onset frequent in SCA-7/DRPLA older adult: SCA-6;
42 : 6/23/2011 42 DEGREE OF ANTICIPATION DRPLA, SCA-7
43 : 6/23/2011 43 H/O VISUAL LOSS- SCA -SEVEN
44 : 6/23/2011 44 HISTORY H/O FEVER PRECEDING OR COMORBID INFECTIOUS /PARAINFECTIOUS VARICELLA- 5-6 YEARS EBV – TEENAGE YEARS HIV TOXOPLASMOSIS CJD H/O VACCINATION
45 : 6/23/2011 45 SEIZURES H/O SEIZURES- MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME, INFANTILE ONSET OPCA; SCA-10 EARLY ONSET DRPLA AND SCA-7 SEIZURES – GENERALISED AND CPS IN 25-85% IN SCA-10 SEIZURES- SCA-TENS AND SEVEN
46 : 6/23/2011 46 PAROXYSMAL OR EPISODIC EA-2- ATAXIA FOR SEVERAL HOURS A/W VERTIGO Betwn attacks normal or only minimal cerebellar ataxia and nystagmus responding to acetazolamide EA-1 ATAXIA PRECIPITATED BY EXERCISE NOT A/W VERTIGO, With muscle myokimia rippling REMITTING RELAPSING EPISODES – DEMYELNATION- MS
47 : 6/23/2011 47 MEMORY LOSS , PSCHIATRIC DISTURBANCES- SCA-12 SCA-17(EARLY AND SEVERE COGNITIVE DECLINE WITH BEHAVIOURAL CHANGES) SCA-27 (AGGRESSIVE OUTBURSTS) DRPLA
48 : 6/23/2011 48 H/O SLEEP DISTURBANCES INCLUDING RESTLESS LEGS –SCA-3 H/O DEVELOPMENTAL DELAY/MR- With optic atrophy ± mental retardation (including Behr syndrome)    With cataract and mental retardation Marinesco-Sjögren syndrome SCA-13
49 : 6/23/2011 49 CRANIAL NERVES HISTORY VISUAL LOSS- SCA-7 H/O DIPLOPIA ON WALKING DOWNSTAIRS- C/L 4TH NERVE PALSY- SCAr PTOSIS / MYAESTHENIA GRAVIS- EATON LAMBERT SYNDROME – WITH ATAXIA- PARANEOPLASTIC CEREBELLAR DEGENERATION A/W FACIAL DEVIATION OF ANGLE OF MOUTH-AICA A/W DEAFNESS-AICA, SCAr SCA 7, FA A/W VERTIGO NAUSEA VOMITING- POSSIBLE VESTIBULAR NUCLEUS INVOLVEMENT- AICA, PICA,>SCARTERY
50 : 6/23/2011 50 CRANIAL NERVES DYSPHAGIA DYSARTHRIA EARLY FACIAL MYOKYMIA POOR COUGH FACIAL ATROPHY DYSPHAGIA FACIAL MYOKYMIA SCA-1 SCA-2
51 : 6/23/2011 51 AICA PICA A/W DEAFNESS LATERAL GAZE PALSY Facial palsy Multimodal sensory impairment of face
52 : 6/23/2011 52 SENSORY SYSTEM SENSORY LOSS FACE THERMOANAESTHESIA THEN HYPALGESIA–AICA SYNDROME, PICA IMPAIRED TEMPERATURE DISCRIMINATION IN A GENERALISED FASHION-SCA-3 C/L SENSORY LOSS-AICA,PICA
53 : 6/23/2011 53 H/O INVOLUNTARY MOVEMENT H/O INVOLUNTARY MOVEMENTS CHOREATHETOSIS-AT ,INFANTILE ONSET OPCA, AOA-1 MYOCLONUS WITH ATAXIA- CJD, MERCURY POISONING Myoclonus AND cerebellar ataxia common in age 7-17years – dysynergia cerebellaris myoclonica of ramsay hunt MYOCLONUS-DRPLA,SCA-14 DYSTONIA,DYSKINESIAS PARKINSONISM SIGNS-SCA17 CHOREA HEAD TREMOR, AXIAL MYOCLONUS-SCA-14 ( RIPPLING MUSCLES) CHOREA AND DYSTONIA CAN DEVELOP IN SCA1 HEAD AND HAND tremor – SCA-12,16
54 : 6/23/2011 54 ANS ANHIDROSIS OF FACE-HORNERS SYNDROME- AICA, PICA,SCAr AUTONOMIC DEFICITS- SCA-3
55 : 6/23/2011 55 OTHER HISTORIES H/o IDDM- gad ab to thyroid, isletcells parietal cells H/ DM- 10% -FA H/0 chest pain palpitation dyspnoea- hocm 50% -DCM- FA H/o recurrent respiratory infections , skin anergy- AT H/s/o hematological malignancies-AT
56 : 6/23/2011 56 LUMP H/o lump in breast, swellings in lymphnode sites- paraneoplastic cerebellar degeneration H/o thyroid swelling- hypothyroid H/o mass abdomen- ovarian malignancies, lymphomas- paraneoplastic cerebellar degeneration
57 : 6/23/2011 57 H/O INFERTILITY- ATAXIA WITH HYPOGONADISM-HOLMES ATAXIA H/O STD EXPOSURE- HIV, TABES DORSALIS
58 : 6/23/2011 58 PERSONAL HISTORY ALCOHOL – Progressive gait disturbances- , Relative sparing of cerebellar hemispheres Vermian atrophy GLUTEN SENSITIVITY SMOKER- VASCULAR CAUSE
59 : 6/23/2011 59 DRUG HISTORY H/O DRUGS AED PHENYTOIN lithium, barbiturates. CANCER CHEMOTHERAPEUTIC AGENTS -5 FU CYTARABINE IN HIGERE DOSES >3G/M2 FOR 8-12 DOSES H/O DRUG ADDICTS ADULTERATED HEROIN - ACUTE AND SEVERE ATAXIC SYNDROME H/O EXCESSIVE INTAKE OF BISMUTH SALICYLATE(PEPTO BISMOL)
60 : 6/23/2011 60 ORGANIC MERCURY POISONING mercury containg fungicides paraesthesias, ataxia, restricted visual field CHRONIC SOLVENT ABUSE-TOLUENE-SPRAY PAINT AND PAINT THINNERS ARE SOURCES FOR THIS ATAXIA
61 : 6/23/2011 61 H/O STROKE –MELAS, VASCULAR CAUSE FOR ATAXIA h/o hypoxic episode -hypoxic encephalopathy
62 : 6/23/2011 62 MENSTRUAL HISTORY OVARIAN MALIGNANCY -PARANEOPLASTIC CEREBELLAR DEGENERATION
63 : 6/23/2011 63 GENERAL EXAMINATION THROID SWELLING, SHORT STATURE FOR HYPOTHYROIDISM LYMPHADENOPATHY- LYMPHOMA,BREAST MALIGNANCIES LUNG CARCINOMAS HIV, FOOT DEFORMITY- PES CAVUS – FA SKELETAL DEFORMITY/ SPINAL DEFORMITY- FA, INFANTILE ONSET OPCA TELANGIECTASIA IN CONJUCTIVA AND EARS-AT SHORT STATURE AND ENDOCRINE DEFICIENCIES- MITOCHONDRIAL DISEASES AND ATAXIA VITAMIN DEFICIENCY- AVED KF RING-WILSONS DISEASE SKIN ICTHYOSIS- REFSUM’S
64 : 6/23/2011 64
65 : 6/23/2011 65 POORLY DEVELOPED SECONARY SEXUAL ORGANS-ATAXIA WITH HYPOGONADISM
66 : 6/23/2011 66 HIGHER FUNCTIONS DEMENTIA AND ATAXIA- CJD, HIV COGNITIVE AND PSYCHIATRY MANIFESTATIONS LIKE DEPRESSION ANXIETY AND HALLUCINATIONS R COMMON IN MITOCHONDRIA RECESSIVE ATAXIA SYNDROME LEARNING DEFICITS- INFANTILE ONSET OPCA COGNITIVE DECLINE-AOA-1,SCA-2 COGNITIVE CHANGES –EXECUTIVE DYSFN-SCA-1 MENTAL SUBNORMALITY- MARINESCO SJOGREN SYNDROME With optic atrophy ± mental retardation (including Behr syndrome)    With cataract and mental retardation Marinesco-Sjögren syndrome DEMENTIA PSYCHIATRY FEATURES- SCA -12,17,27, DRPLA MENTAL RETARDATION- SCA-13
67 : 6/23/2011 67 CRANIAL NERVES
68 : 6/23/2011 68 EYE FINDINGS Restricted visual field defects- mercury poisoning Opthalmoplegia,ataxia lower cranial n palsies- bickerstaff”s encephalitis PTOSIS / MYAESTHENIA GRAVIS- EATON LAMBERT SYNDROME – WITH ATAXIA- PARANEOPLASTIC CEREBELLAR DEGENERATION FUNDUS-RETINOPATHY-ABETALIPOPROTEINEMIA CATARACT-MARINESCO SJOGREN SYNDROME NEUROGENIC WEAKNESS ,ATAXIA RETINITIS PIGMENTOSA-NARP PROGRESSIVE EXTERNAL OPTHALMOPLEGIA-KEARNS SAYRE SYNDROME CORNEAL HYPOESTHESIA-AICA RETINAL DEGENERATION- VISUAL LOSS- SCA-7 SUBCLINICAL VISUAL LOSS TRITAN AXIS DEFECT ON FARNSWORTH D15 COLOR VISION TEST-SCA-7
69 : 6/23/2011 69 OPTHALMOPARESIS [127] - SCA 1 SCA 2 SCA 7 Oculomotor apraxia requiring head thrust for eye movements ,absent okn, telangiectasia in conjuctiva and ears-ATAXIA TELANGIECTASIA OCULOMOTOR APRAXIA-AOA-1 AOA-2 C/L 4TH N PALSY- SUPERIOR CEREBELLAR ARTERY SYNDROME C/L 6TH N PALSY-AICA SYNDROME
70 : 6/23/2011 70 NYSTAGMUS DOWNBEAT NYSTAGMUS- SCA-6 EA-2 EYE MOVEMENT ABNORMALITIES- SQUARE WAVE JERKS- FA BRUNS NYSTAGMUS-tumor of the cerebellopontine angle -, the nystagmus is coarse on looking toward the side of the lesion and fine and rapid on gaze to the opposite side Gaze-evoked nystagmus, upbeat nystagmus, rebound nystagmus, opticokinetic nystagmus may all be seen in midline cerebellar lesions Other ocular lesions seen include opsoclonus, skew deviation, ocular bobbing Rebound nystagmus is a type of nystagmus that may be unique to cerebellar disease; the fast component is in the direction of lateral gaze, but transiently reverses direction when the eyes come back to primary position
71 : 6/23/2011 71 OPTIC ATROPHY- FA, INFANTILE ONSET OPCA With pigmentary retinopathy    ) With optic atrophy ± mental retardation (including Behr syndrome)    With cataract and mental retardation    (Marinesco-Sjögren syndrome
72 : 6/23/2011 72 SACCADES CONTRAPULSION OF SACCADES- SUPERIOR CEREBELLAR ARTERY SYNDROME LATEROPULSION OF SACCADES-PICA SLOW SACCADES- SCA-2,7 LATE IN 1,3 UNCOMMON IN SCA-6 (1237)
73 : 6/23/2011 73 SCA PICA CONTRAPULSION OF SACCADES HORIZONTAL SACCADES AWAY FROM LESION DURING ATTEMPTED VERTICAL SACCADES LEADING TO OBLIQUE TRAJECTORIES HYPERMETRIA OF C/L SACCADES HYPOMETRIA OF I/L SACCADES LATEROPULSION OF SACCADES DIRECTED TOWARDS SIDE OF LESION HYPERMETRIA OF I/L SACCADES HYPOMETRIA OF C/L SACCADES
74 : 6/23/2011 74 SLOW SACCADES DISCONJUGATE MOVEMENTS OPTHALMOPARESIS PTOSIS EYELID RETRACTION BLEPHAROSPASM MJD
75 : 6/23/2011 75 CRANIAL NERVES DYSPHAGIA DYSARTHRIA EARLY FACIAL MYOKYMIA OPTHALMOPARESIS SLOW SACCADES FACIAL DYSKINESIAS – SCA WITH TREMOR DEAFNESS –SCA 7, FA SCA-1
76 : 6/23/2011 76 BRAIN STEM SIGNS FACIAL AND TONGUE FASCICULATIONS OR MYOKYMIA POOR COUGH FACIAL ATROPHY DYSPHAGIA MJD
77 : 6/23/2011 77 Multimodal sensory impairment of face Sensory loss face thermoanaesthesia then hypalgesia –AICA SYNDROME SENSORY LOSS OF FACE- PICA Facial n palsy- AICA , SOMETIMES IN FA Deafness- FA, INFANTILE ONSET OPCA, AICA SYNDROME , SUPERIOR CEREBELLAR ARTERY SYNDROME
78 : 6/23/2011 78 A/W MUSCLE MYOKYMIA RIPPLING IN BETWN ATTACKS OF ATAXIA- EA-1 PLANTAR EXTENSOR- FA INFANTILE ONSET OPCA,ARSACS
79 : 6/23/2011 79 UMN SIGNS SPASTICITY AND BRISK REFLEXES FRQUENT IN SCA-1,3,7,8 SPASTICICTY-ARSACS SCA-17
80 : 6/23/2011 80 DTR ABSENT FA , INFANTILE ONSET OPCA(PLANTAR EXTENSOR) SCA-2,4 AREFLEXIA IN ALSO LATE ONSET SCA -3
81 : 6/23/2011 81 PERIPHERAL NEUROPATHY MITOCHONDRIA RECESSIVE ATAXIA SYNDROME, INFANTILE ONSET OPCA AOA-1AOA-2 SENSORY PREDOMINANT POLYNEUROPATHY-SCA-1 ,8 PERIPHERAL NEUROPATHY EARLY-SCA-2 WADIA TYPE SENSORY ATAXIAS
82 : 6/23/2011 82 IMPAIRED TEMPERATURE DISCRIMINATION IN A GENERALISED FASHION-SCA-3
83 : 6/23/2011 83 MYOPATHY MARINESCO SJOGREN SYNDROME MITOCHONDRIAL DISEASES AND ATAXIA
84 : 6/23/2011 84 POSTERIOR COLUMN PROPRI0CEPTIVE SENSORY LOSS- FA, AVED,MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME SCA-6
85 : 6/23/2011 85 CEREBELLAR ATROPHY WITH BASAL GANGLIA FEATURES MJD –SCA3 MSA-C DRPLA DENTATODRUBRAL DEGENERATION ALSO IN SCA -1,2,17
86 : 6/23/2011 86 EP Myoclonus with ataxia- CJD, mercury poisoning Athetosis of hands and feet- infantile onset opca Chorea athetosis of hands and feet and dystonia, in few instances parkinsonism ,myoclonus- DRPLA Myoclonus AND cerebellar ataxia common in age 7-17years – dysynergia cerebellaris myoclonica of ramsay hunt MYOCLONUS-DRPLA,SCA-14 DYSTONIA,DYSKINESIAS PARKINSONISM SIGNS-SCA17 CHOREA HEAD TREMOR, AXIAL MYOCLONUS-SCA-14 ( RIPPLING MUSCLES) CHOREA AND DYSTONIA CAN DEVELOP IN SCA1
87 : 6/23/2011 87 Among AD ataxias chorea is prominent in DRPLA And appears late in other ataxias HEAD AND HAND tremor – SCA-12,16
88 : 6/23/2011 88 ANS MSA-C HORNERS SYNDROME-AICA, PICA,SCA
89 : 6/23/2011 89 SPINE AND CRANIUM CV JUNCTION ANOMALIES FREDRICH’S ATAXIA- skeletal and spinal deformity common. pescavus, pes equinovarus, scoliosis
90 : 6/23/2011 90 CEREBELLAR ATAXIAS result of insult to the cerebellum and its connecting pathways. - Acquired, Inherited, Sporadic ataxia Acquired ataxias - In many progressive ataxia result from environmental insults Hypothyroidism - occasionally -mild gait ataxia in conjunction with - its systemic symptoms - TFT needed in patient with progressive ataxia Dx - clinical + TFT Rx replacement Hypoparathyroidism Hypoglycemia Hypoxia damages Purkinje cells-ataxi ,myoclonus may result Hyperthermia damage purknije cells Hyperammonia in child Wilsons dx-tremor,dystonia; Rx is copper restriction ,chelation
91 : 6/23/2011 91 Toxic Alcohol- -The major exogenous agent causing ataxia significant proportion of alcoholics have midline cerebellar degeneration at autopsy. - characterized by progressive gait disturbance of a cerebellar type with little in the way of upper limb ataxia, speech difficulties, or eye movements abnormalities (relative sparing of cerebellar hemispheres - Imaging- typical vermial atrophy. -Chronic alcoholism - significant cerebellar atrophy (1% severe alcoholics)
92 : 6/23/2011 92 Chemotherapy - Adverse effect of 5- FU (used in breast and GI cancer) - Conventional dose of 5-FV may cause cerebellar ataxia if there is an abnormality of pyrimidine dehydrogenase deficiency. - Higher dose 5-FU - pancerebellar syndrome (acute or sub acute coarse) - cytosine arabinoside in high dose ( 3 gm/m2 for 8-12 doses- conventional dose 1000-2000 mg/m2 for 5-7 days) significant pts develop cerebellar syndrome. Pathologically characterized by loss of Purkinje cells, gliosis , loss of dentate neurons, and spongiform changes.
93 : 6/23/2011 93 Metals Organic mercury contamination from mercury -containg fungicides. - Mercury toxic cerebellar granule cells and visual cortex. - causes parasthesia, ataxia, restricted visual field. Manganese- Parkinson + ataxia Bismuth- gait ataxia, confusion. mycoclonus Solvents - chronic solvents abuse (esp. toluene) - spray paint - paint thinners  
94 : 6/23/2011 94 Anticonvulsants - Issue of cerebellar atrophy and anticonvulsant (phenytoin) is controversial. - Transient cerebellar signs in supratherapetic dose many anticonvulsants seen.
95 : 6/23/2011 95 Infections may be feature of post infectious encephalomyelitis but usually accompanies more diffuse cerebral process. In children restricted cerebellar syndromes seen when acute ataxic disorder that is not associated with a more diffuse process reflected by seizures, meningismus or obtundation. In most children preceded by a non specific viral syndrome or varicella-peak incidence 5-6yr. similar picture from EBV in teenage years. Dx CSF protein elevation and modest mononuclear pleocytosis and MRI -signal density changes in the cerebellum. Px - excellent. Brain stem encephalitis - ataxia ophtalmoplegia and other lower cranial nerve palsies- resemble MFS of GBS
96 : 6/23/2011 96 HIV - Many neurologic syndrome - ataxia - Most pts have focal lesions, like lymphoma, chronic meningeal infection, PML or toxoplasmosis. - 30% - have ataxia prior dementia - MRI - cerebellar atrophy - Pathology - marked granule cell loss.
97 : 6/23/2011 97 CJD - progressive ataxia. Rapidly progressive dementing illness. - Due to accumulation of mutant prion protein (result from post translational modification of normal prion protein) Among CJD - 17% early ataxia 60% cerebellar pathology at autopsy. Upper motor neuron signs are common, - myclonus -25% and dementia evolves late. - Survival 7wk - 8 years - Pathological- cerebellum shows striking granule cell loss - Dx - protein 14-3-3 in CSF and coden 29 homozygosisty tall-by ELISA
98 : 6/23/2011 98 Autoimmune causes of ataxia Paraneoplastic cerebellar degeneration syndrome that reaches its nadir with in a few months of onset. Produces severe ataxia wit dysarthria and oscillopsia, diplopia, vertigo other neurologic sn-dementia, extra pyramidal signs, hearing loss, dysphagia. MRI- typically-cerebellar atrophy and high density signal in deep white matter. CSF- mononuclear pleocytosis and oligoclonal bands. The syndrome results from autoimmune process triggered by the cancer. Anti Yo in ovarian ca Anti-Hu. Ab. in SCLC. Purkinjec cell degeneration in 25 % with Anti.Hu.Ab. Anti Ri Ab - truncal ataxia and opsoclonus in breast cancer.
99 : 6/23/2011 99 Ataxia with Gluten Sensitivity Seen as neurological complication in celiac disease 68% had antigliadin Ab. Slowly progressing ataxia associated with brisk tendon reflexes, peripheral neuropathy, cognitive changes, mycolonus. Pathology - cerebellar Purkinje cell loss, infiltration by Tcell lymphocyte, posterior column degeneration Variable proportion show celiac sprue on duodenal Bx. Whether gluten -free diet or other immunomodulation will improve gliadin Ab- associated ataxia is unclear.
100 : 6/23/2011 100 Ataxia and antiglutamate decarboxylase antibodies. - Recently reported Anti GAD in progressive ataxia. - Usually middle aged women - associated with peripheral neuropathy, slow saccades, stiff- person syndrome. - Many pts had multiple organ specific Ab including Ab to thyroid cell, pancreatic islet cell, Abs are seen in higher titers in adult onset diabetes and cerebellar purkinje cells. Nutritional vit E deficiency Rare In some lipid malabsorption eg. In cystic fibrosis,cholestatic dx Demyelinating (ms) - clinical feature other CNS involvement CSF findings
101 : 6/23/2011 101 Vascular Lesions –cerebellum / cerebellar peduncles Infarction - thrombotic or embolic occlusion of cerbellar vessels clinical manifestation depends on specific vessels involved and extent of collateral circulation main symptoms vertigo dizziness, nausea, vomitting gait unsteadiness, limb clumsiness, headache dysarthria, diplopia and decreased alertness, nystagmus. 2 clinical syndromes - cerebellar infarcts with fourth ventricular and brainstem compression and those without.
102 : 6/23/2011 102 Mass lesions Most common is hemorrhage near dentate nucleus in HTN,edema in large infarct, tumors in children-medduloblastoma, astrocytoma, ependymoma and Adults,-Metastasis of tumor, hemangioblastoma, abscess, tuberculomas,other granulomas, toxoplasmosis Cerebellar hemorrhages with headache,nausae,vomitting,gait ataxia,vertigo are common but variable. are emergency devastating. Abscesses notorious for paucity and variability of signs,may present with headache alone infections are in or near adjacent structures(OM,mastoditis) Hydrocephalus
103 : 6/23/2011 103 INHERITED ATAXIAS Autosomal dominant, autosomal recessive or maternal (mitochondrial) modes
104 : 6/23/2011 104 Autosomal Recessive Ataxia Most common form of inherited ataxia (50%) Most of disease begin in childhood or early adult life. Late onset possible Singleton pt- may occur in families. Typically parents don't manifest any Sx because they are heterozygous for mutation. Affects both males and females.
105 : 6/23/2011 105 Some of autosomal recessive ataxia Frederich’s ataxia Ataxia telangectasia Ataxia with isolated vit E deficiency Abetalipoproteinemia ARA of Charlovox-Sanguenay
106 : 6/23/2011 106 Friendreich's Ataxia Clinicla Features; prevalence 2/100,000 . Age of onset <25 yr. typically early adolescent. Onset ?ing gait difficulty, gait ataxia, loss of proprioceptive sense in lower limbs, absent DTR (generalized or lower limb) because early involvement of dorsal root ganglion cell, dysarthria, UMN sign. Pts loose ambulation by 9-15 yrs after onset. (at this stage increasing ataxia in both upper and lower extremities profound proprioceptive loss, areflexia, weakness of lower limb muscles, dystonia ,flexor spasm and increasing dysarthria, dysphagia. Optic athrophy, hearing loss in many
107 : 6/23/2011 107 ECG abnormality and HCMP- 50% pts, Diabetes (10-20%)- insulin resistance and B cell dysfunction, skeletal and spinal deformity common. pescavus, pes equinovarus, scoliosis Mean age at death 4th decade (cause- cardiac/ respiratory)
108 : 6/23/2011 108 Mutation in FA is unstable expansion of a repeated trinucleotide(GAA) sequence within the first intron of the gene X25 on chromosome 9 or point mutation of the gene (5% heterozygous) Pathogenesis presence expanded GAA sequence- reduced transcription and translational efficiency leading to partial deficiency of the protein frataxin. the exact function of ftataxin not clear- is mitochondrial iron availability heme synthesis.
109 : 6/23/2011 109 Ataxia Telangiectasia 3 in million frequency Sx/Sn- Present in the first decade of life with progressive telangiectatic lesions associated with deficits in cerebellar function and nystagmus neurologic manifestations correspond to FA so ddx. High incidence of pulmonary infections and lymphatic and RES neoplasms. Thymic hypoplasia (Cellular and humoral immunodefinciency) Premature aging, endocrine disorders type 1 Dm. Increased incidence of lymphomas, HD ,acute leukemias of T-cells, and breast cancer. Most striking neurologic change: - loss of purkingje, granule and basket cells in the cortex and neurons in the deep cerebellar nuclei, neuronal loss in olive, loss of anterior horn cells, dorsal root ganglion. Gene- ATM gene mutation product protein may result in DNA damage
110 : 6/23/2011 110 Mitochondrial Ataxias. Clinical spectrum involves cardiomyophathy and enchephalopathy
111 : 6/23/2011 111 Autosomal Dominant Ataxia - Onset usually in 3rd - 5th decade but variable onset of age. - Disease occurs in each generation of the pedigree, the offspring of affected parents 50% risk. - The progressive dominant ataxias are labeled SCA, followed by a number to denote the chromosomal locus. Some differently named are MJD(SCA3), DRPLA (Dentatorubropallidolusysian atrophy),Episodic ataxias (EA1, and EA2) - Absence of Sx in either parents is rare. But possible because early onset in child and late in parent, death of parent early, wrong paternity.
112 : 6/23/2011 112 Clinical Features of Dominant Ataxia Overall have overlapping clinical features. Genetic study is gold standard for Dx & classification - Gradually progressive ataxia associated with an array of cerebellar signs forms the core features of the Dx. - ataxic gait, dysmetria, dysdiadokinesia, dysarhria, abnormal persuit and inaccurate saccades of the eyes, nystagmus. - Many, not all Dx are associated with clinical signs referable to pathology in CNS structures. - Occulomotor abnormality - ptosis, gaze palsy, blepharospasm - some- bulbar deficts- facial atrophy, facial fasciculation, toungue atrophy and fasciculation, unable to cough. - UMN sign - DTR, spasticity, Babniski sign - Extrapyramidal sign- akinetic rigidity, chorea, athetosis, dystonia - PN- distal sensory loss and DTR , amyotrophy - In some cognitive decline and seizure, retinal disease and visual loss. - loss of ambulation over 10-15 yrs.
113 : 6/23/2011 113
114 : 6/23/2011 114 SCA-1 CHILDHOOD-70 MEAN 30YEARS ATAXIA WITH UMN SIGNS COGNITIVE CHANGES –EXECUTIVE DYSFN DYSPHAGIA DYSARTHRIA EARLY FACIAL MYOKYMIA INEFFECTIVE COUGH OPTHALMOPARESIS SLOW SACCADES SENSORY PREDOMINANT POLYNEUROPATHY AMYOTROPHY EP FEATURES-CHOREA DYSTONIA DEATH 15-20 YEARS
115 : 6/23/2011 115 SCA-2 WADIA TYPE SLOW SACCADES EARLY GENERALISED AREFLEXIA PERIPHERAL NEUROPATHY OTHER FEATURES DYSTONIA L DOPA RESPONSIVE PARKINSONISM COGNITIVE DECLINE INFANTILE FORM IS THERE
116 : 6/23/2011 116 SCA-3 MOST PREVALENT CEREBELLAR SIGNS BRAIN STEM SIGNS FACIAL AND TONGUE FASCICULATIONS OR MYOKYMIA POOR COUGH FACIAL ATROPHY DYSPHAGIA EP FEATURES SUCH AS PARKINSONISM RESPONSIVE TO LDOPA OR DYSTONIA
117 : 6/23/2011 117 MJD-NON CEREBELLAR EYE SIGNS SLOW SACCADES DISCONJUGATE MOVEMENTS OPTHALMOPARESIS PTOSIS EYELID RETRACTION BLEPHAROSPASM
118 : 6/23/2011 118 SCA-3-LATER ONSET CASES ATAXIA AMYOTROPHY AREFLEXIA PERIPHERAL NEUROPATHY
119 : 6/23/2011 119 MJD-OTHER FEATURES COGNITIVE DECLINE SLEEP DISTURBANCES INCLUDING RESTLESS LEGS AUTONOMIC DEFICITS IMPAIRED TEMPERATURE DISCRIMINATION IN A GENERALISED FASHION
120 : 6/23/2011 120 Type I MJD (amyotrophic lateral sclerosis–parkinsonism–dystonia type), Type III MJD (ataxic-amyotrophic type)
121 : 6/23/2011 121 MJD three clinical types In type I MJD (amyotrophic lateral sclerosis–parkinsonism–dystonia type), neurologic deficits appear in the first two decades weakness and spasticityof extremities, especially the legs, dystonia of the face, neck, trunk, and extremities. Patellar and ankle clonus are common, as are extensor plantar responses. The gait is slow and stiff, with a slightlybroadened base and lurching from side to side; this gait results from spasticity, not true ataxia. There is no truncaltitubation. Pharyngeal weakness and spasticity cause difficulty with speech and swallowing. prominence of horizontal and vertical nystagmus, loss of fast saccadic eye movements, hypermetric and hypometric saccades, and impairment of upward vertical gaze. Facial fasciculations, facial myokymia, lingual fasciculations without atrophy, ophthalmoparesis, and ocular prominence are common early manifestations.
122 : 6/23/2011 122 Type III MJD (ataxic-amyotrophic type) presents in the fifth to the seventh decades with a pancerebellar disorder that includes dysarthria and gait and extremity ataxia. Distal sensory loss involving pain, touch, vibration, and position senses and distal atrophy are prominent, indicating the presence of peripheral neuropathy. The deep tendon reflexes are depressed to absent, and there are no corticospinal or extrapyramidal findings.
123 : 6/23/2011 123 The mean age of onset of symptoms in MJD is 25 years. Neurologic deficits invariablyprogress and lead to death from debilitation within 15 years of onset, especially in patients with types I and II disease. Usually, patients retain full intellectual function.
124 : 6/23/2011 124 SCA-6 PURE CEREBELLAR SIGNS MILD PYRAMIDAL SIGNS POSITIONAL VERTIGO DOWNBEAT NYSTAGMUS NORMAL LIFE SPAN SHARES PHENOTYPICAL FEATURES WITH HEMIPLEGIC MIGRAINE AND EA2 BECAUSE OF LATER ONSET NO FAMILY HISTORY BIG SIXER- B FOR BENIGN BEAT DOWN NYSTAGMUS
125 : 6/23/2011 125 SCA-7 SEVEN VISUAL LOSS RELATED TO MACULOPATHY LIKE 123 ATAXIA WITH SPASTICITY BUT OF EXTREME NATURE EP AND PERIPHERAL NEUROPATHY SIGNS ARE UNCOMMON EARLY ONSET CASES VISUAL LOSS BEFORE ATAXIA IN LATE ONSET CASES ATAXIA BEFORE VISUAL LOSS
126 : 6/23/2011 126 SCA-8 ATAXIA SPASTICITY BRISK REFLEXES (1378)
127 : 6/23/2011 127 SCA-10 MEXICAN AND BRAZIL FAMIILIES SLOWLY PROG ATAXIA SEIZURES – GENERALISED AND CPS IN 25-85% VARIABLE PYRAMIDAL,PERIPHERAL NERVE,NEUROPSYCHIATRY FEATURES
128 : 6/23/2011 128 SCA-12 IN INDIA MILD ATAXIA ACTION TREMOR OF HANDS AND HEAD BRADYKINESIAS PSYCHIATRY FEATURES USUAL ONSET IN 40S
129 : 6/23/2011 129 SCA-13 VERY SLOWLY PROGRESSIVE ATAXIA OF CHILDHOOD WITH MILD MENTAL RETARDATION
130 : 6/23/2011 130 SCA-14 ATAXIA AXIAL MYOCLONUS CHOREA HEAD TREMOR RIPPLING MUSCLES IN SOME
131 : 6/23/2011 131 SCA-17 ATAXIA UMN SIGNS EARLY AND SEVERE COGNITIVE DECLINE WITH BEHAVIOURAL CHANGES DYSKINESIAS DYSTONIAS PARKINSONISM SIGNS
132 : 6/23/2011 132 SCA-27 HAND TREMOR ATAXIA PSYCHIATRIC SYMPTOMS AGGRESSIVE OUTBURSTS
133 : 6/23/2011 133 THANK U

 

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