![Introduction
• Ataxia = from Greek- a- [lack of]+ taxia [order]
• Rate, rhythm and force of contraction of voluntary
movements
• Disorganized, poorly coordinated, or clumsy movements
Traditionally used specifically for lesions involving
• Cerebellum or it’s pathways
• Proprioceptive sensory pathways](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
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Approach to Ataxia: A Comprehensive Guide
- 1. 1 PRESENTER- DR.PALLAV JAIN DM RESIDENT(NEUROLOGY) GMC,KOTA Approach to Ataxia
- 2. Introduction • Ataxia = from Greek- a- [lack of]+ taxia [order] • Rate, rhythm and force of contraction of voluntary movements • Disorganized, poorly coordinated, or clumsy movements Traditionally used specifically for lesions involving • Cerebellum or it’s pathways • Proprioceptive sensory pathways
- 3. Localisation • Cerebellum (most common) • Sensory pathways (Sensory Ataxia)-posterior columns, dorsal root ganglia, peripheral nerves • Vestibular dysfunction
- 4. Sensory Ataxia • Loss of distal joint, position sense • Absence of cerebellar signs such as dysarthria or nystagmus • Loss of tendon reflexes • Corrective effects of vision on sensory ataxia • Romberg sign
- 5. Vestibular Dysfunction • Vertigo is prominent • Consistent fall to one side • Nystagmus • Limb ataxia is absent • Speech is normal • Joint position sense is normal
- 6. Approach to ataxic patient Meticulous evaluation of History Age at Onset Course of disease Drug intake Family History Personal Social & Occupational information Distribution of ataxia History of other system illness Neurological evaluation Ancillary tests 6
- 7. History • Age at onset Childhood (congenital, metabolic, infectious, posterior fossa tumors, hereditary ataxias - more common) Adult (sporadic ataxias, hereditary ataxias) • Course of illness/progression Acute (metabolic/toxic, infectious, inflammatory, traumatic) Subacute (metabolic/toxic, infectious, inflammatory, paraneoplastic, tumor) Chronic (more likely genetic, degenerative, tumor, paraneoplastic) 7
- 8. • Drug intake – Phenytoin, barbiturates, lithium, immunosuppressants (methotrexate, cyclosporine), chemotherapy (fluorouracil, cytarabine) • Family history – Study at least 3 generations – Consanguinity – Ethnicity • Social/Occupational History – Alcohol and drug use, toxins (heavy metals, solvents, thallium), smoking (Vascular) History 8
- 9. Distribution of ataxia • Symmetric - Acquired, Hereditary, degenerative ataxias • Asymmetric- Vascular, Tumors, congenital causes Other system illness • Gastrointestinal symptoms- gluten ataxia • Mass lesion- paraneoplastic ataxias History 9
- 10. Children • Refusal to walk or with a wide-based, "drunken" gait. • Vertigo, dizziness and vomiting • Personality and behavioral changes. • Abnormal mental status • A history of head trauma ,neck trauma • Patients with a recent infection or vaccination • Previous similar episodes of acute ataxia. • Children with family members with ataxia 10
- 11. Examination Neurological examination • Ataxia (appendicular or axial) • Dysmetria • Dysdiadochokinesia • Rebound Phenomenon • Dysarthria • Tremor • Titubation and increased postural sway • Hypotonia • Nystagmus • Other system evaluation Breast Lump, mass per-abdomen etc. 11
- 12. Neuro-ophthalmologic evaluation in ataxia Retinal pigmentosa Refsum disease,mitochondrial disorders Retinal/Macular degeneration SCA 7,aceruloplasminemia Optic atrophy/visual loss MS,FA Square wave jerks FA Occulomotor apraxia AT,AOA1,AOA2 Slow saccades Downbeat Nystagmus SCA2,SCA 7 SCA 6,EA2,anti GAD ataxia 12
- 13. Other Non cerebellar signs Focal and lateralized brainstem deficits(hemiparesis,facial palsy) Posterior circulation stroke,tumour,MS Paplidema, headache Posterior fossa tumours INO Posterior circulation stroke,MS Spasticity, UMN signs SCA 1,3,7,8 ,Strokes,tumour compressing brainstem Basal ganglia deficits SCA 1,2,12,17, MJD,MSA,Wilson Tremor SCA 12,115/16, FAXTS 13
- 14. 14 Deafness Mitochondrial,superficial himosiderosis Myoclonus Mitochondrial ,ceroid lipofuschinosis,SCA 7(early onset),SCA 14 Palatal myoclonus Alexander disease,SCA20 Cognitive decline Alcohol,MS,CJD,HIV,DRPLA,SCA12,13, superficial siderosis Psychiatric features SCA 12,17,27 Autonomic failure MSA,FXTAS
- 16. Ataxia with Neuropathy • Friedreich ataxia • AOA2 • Fragile X syndrome • Vit E deficiency ataxia • Anti gliadin ataxia • SCA 2,3,4,12, 18,25,27 • Refsum disease 16
- 17. Ataxia with Dementia • Anti gliadin ataxia • FXTAS syndrme • SREAT • SCA 17, 19, 21, 2, 1, 6 • HIV/AIDS • Mitochondrial disease • Amylodosis 17
- 18. Ataxia with seizures • Anti GAD • Anti gliadin • Mitochondrial ataxia • Episodic ataxia • DRPLA • SCA 10, SCA 17 • CJD • SREAT 18
- 19. Investigations • Neuro imaging • Electro diagnostic tests • Ophthalmologic examination- Pigmentary retinopathy, macular degeneration, cataracts, Kayser-Fleischer rings
- 20. • Genetic tests • Metabolic – Thyroid function, vitamins B12, E, and B1, serum cholesterol & plasma lipoprotein profile, phytanic acid, toxicology screen • Immune function - Immunoglobulin levels, Antigliadin antibodies, GAD antibodies, paraneoplastic antibodies
- 21. Laboratory studies • Mitochondrial( Serum lactate and pyruvate) • Heavy metals,PBF for acanthocytes, VLCF, hexosaminidase A/B, alpha fetoprotein & immunoglobulins, serum ceruloplasmin & 24 hour urinary copper • Tissue studies - Muscle, skin and nerve biopsies • CSF studies - Cell count, glucose and protein, oligoclonal bands, 14-3-3 protein, GAD antibodies, paraneoplastic antibodies, lactate/pyruvate
- 23. Signs that Distinguishes SCA subtypes Benign course SCA 6 UMN signs SCA 1,7,8 and 3 Akinetic rigid syndrome SCA 3,2,17 & 12,21 Chorea SCA 2,1,3 Action tremor SCA 12,16 Slow saccades SCA 2 & 7 may be in 1,3 Downbeat nystagmus SCA 6 Hyporeflexia/Areflexia SCA 2,4,3 & 19,21 Vision loss SCA 7 Seizure SCA 10 Myoclonus SCA14 or SCA19 Cognitive impairment SCA2,14,19,21,23 23
- 24. Genetic Testing Protocol of ataxias Spinocerebellar Ataxia Aut.Dominant Aut.RecessiveSporadic LOCA (>25) EOCA (<25)SCA 1 SCA 2 SAC 3 SCA 7 SCA 12 FRDA NO YES YES NO SCA 6 SCA 8 SCA 17 DRPLA YES NO Rare types of SCAs (ADCA) screening Investigation for other ARCA genes Level 20 Level 10 Level 30 features suggestive of SCA LOCA-Late onset cerebellar ataxi EOCA-Early onset cerebellar atax SCA27 SCA28 Age at Onset (Yrs) 10-30 >30 Variable SCA11 SCA14 SCA23 SCA5 SCA13 SCA14 SCA15 SCA28 24
- 25. Disease Additional features over Cerebellar Ataxia Distinguishable features Laboratory findings Sensory Axonal neuropathy MRI-spinal atrophy FA Pes cavus, Amyotrpohy, Extensor Plantar, Nystagmus Cardiomyopathy, DM GAA expansion in FXN Ataxia Vit E Def. Pes Cavus, Extensor Plantar, Head Tremor Retinitis Pigmentosa, Cardiomyopathy Low VitE MRI-Cerebellar Atrophy Infantile onset SCA Pes cavus, Amyotorphy, Ophthalmoplegia,Cognitive Impairment, Chorea Seizures,Hearing loss, Hypogonadism - MRI-Normal Abetalipop rotenemia Pes cavus, Amyotrophy Retinitis Pigmentosa, Lipid Malabsorption, Cardiomyopathy Low VitE, low lipoprotein, acanthocytes Clinical approach to ARCA MRI findings and Nerve conduction studies 25
- 26. Disease Additional features over Cerebellar Ataxia Distinguishable features Laboratory findings Ataxia with sensorimotor Axonal neuropathy MRI-Cerebellar Atrophy Late onset Tay sachs Amyotrophy, tremor, Myoclonus Prominent Extrapyramidal, Seizures,Psychiatric Impairment Hexoseaminidase levels- Ataxia telengiectasi a Occulomotor Apraxia, Amyotrophy,Tremor Myoclonus, Extrapyramidal, Babinski Sign Telengiectasia,Lymphoid cancer, Radiosensitivity,Immunodeficiency, DM High alpha-fetoprotein and low immunoglobin AT like disorders Occulomotor Apraxia, Extrapyramidal Radiosensitivity,Immunodeficiency low immunoglobin Ataxia with OA1 Occulomotor apraxia,Pes cavus, Amyotrophy, tremor, Extrapyramidal, cognitive impairment Scoliosis Low albumin, High Cholesterol Aprataxin gene Ataxia with OA2 Occulomotor Apraxia, Pes Cavus, amyotrophyTremors, Extrapyramidal, cognition Impairment Scoliosis High alpha-fetoprotein, High cholesterol Senataxin gene 26
- 27. Disease Additional features over Cerebellar Ataxia Distinguishable features Laboratory findings MRI-Spinal +Cerebellar Atrophy AR ataxia Charlevoix- Saguenay Pes Cavus, Amyotrophy, Spasticity, extensor Plantar, cogitive Impairment Chromosome 13 MRI-Cerebellar Atrophy + WMH Cerebrotendinou s xanthomatosis Pes Caus Amyotrophy, Spasticity, myoclonus, Parkinsonism Psychiatric Impairment,Tendon Xanthomas,Seizures,Cataract,Liver failure CYP27A1 27
- 28. Sporadic ataxias • Multiple system atrophy (MSA) • Toxins/metabolic • Paraneoplastic cerebellar degeneration • Immune-mediated ataxias (gluten, anti-GAD) • Infectious etiology 28
- 29. Diagnostic approach to sporadic adult-onset ataxia 29
- 30. Antibody Condition Anti-Yo (Purkinje cell antobody type1) Breast and ovarian Ca Anti-Hu (Anti neuronal nuclear antibody type1) Small cell lung Ca (SCLC) Anti-Tr Hodgkin Lymphoma Anti-mGluR1 (metabotrpin glutamate receptor) Hodgkin Lymphoma Anti-CRMP5 (Collapsin receptor mediated protein)/Anti-CV2 SCLC Anti-ZIC4 (zinc finger protein) SCLC Paraneoplastic ataxia associated antibodies
- 31. Causes of sensory ataxia Polyneuropathy Paraneoplastic sensory neuronopathy Sjogren’s syndome Miller Fisher Syndrome Dysproteinemia Cisplatin Pyridoxine excess Acute sensory neuronopathy Chronic ataxic neuropathy Myelopathy Multiple sclerosis Tumour or cord compression Vascular malformation Vacuolar myelopathy Myeloneuropathy Freidriech’s Ataxia Vitamin B12 deficiency Vitamin E deficiency Tabes dorsalis Nitrous oxide 31
- 32. 32 Cerebral Sensory frontal Base of support Wide base Looks down Wide base Velocity Variable Slow Very slow Initiation Normal Normal Hesitant Turns Unsteady Unstaedy Hesitant,multiple steps Postural instability + + +++++ Falls Late event More in night Frequent Heel shin Abnormal Abnormal,difficul ty in point of initiation Normal
- 35. Differential diagnosis Non cerebellar causes of acute ataxia • Acute ataxic variant of GBS • Miller Fischer Syndrome • Acute vestibulitis/labyrinthitis 35
- 36. Autosomal recessive ataxia MRI- Cervical cord atrophy without cerebellar atrophy • FA • Ataxia with Vitamin E deficiency 36
- 37. Patient p/w Autosomal dominant anticipation ataxic gait With vision loss SCA-7 37
- 39. Hot cross bun • Seen in Axial T2 W images • Seen in Multiple System Atrophy (MSA-C) • Crucifrom hyperintensities in Pons • Due to selective loss of myelinated transverse pontocerebellar fibers and neurons in the pontine raphe with preservation of the pontinetegmentum and corticospinal tracts. 39
- 40. May also be seen in • SCA 2 • SCA 3 • Vcjd • HIV related PML 40
- 41. • A 9-year-old girl p/w gait instability. O/E, she has reduced sensation to light-touch and pinprick, reduced vibratory sensation, and impaired proprioception.DTR- are absent. She also have truncal and limb ataxia and choreoathetosis. Correct? a. AD in inheritance b. Results from a trinucleotide repeat expansion c. Results in impaired DNA repair d. Patients with this disorder have hypergammaglobulinemia e.Reduced risk of malignancy is seen with this disorder 41
- 42. • A 19-year-old woman is brought to the clinic for progressive gait disorder. She had a history remarkable for bilateral cataracts, cognitive decline, and personality changes that are of unclear etiology and under investigation. On examination, she has dysmetria, a widebased gait, and evidence of neuropathy. Which of the following tests would help? a. Thyroid-stimulating hormone b. Analysis of CAG repeat number on chromosome 14 c. Serum cholesterol levels d. Serum cholestanol levels e. Serum copper and ceruloplasmin 42
- 43. • A 63-year-old ,h/o of alcoholism>30 years’ p/w walking difficulties. O/E- wide based, lurching gait,minimal dysmetria on FN or HS testing.No eye movement abnormalities,no nystagmus.MRI- cerebellar atrophy, particularly in the midline.Which of the following statements is correct? • a)His history of alcoholism is unlikely to be related as only acute alcohol intoxication leads to gait ataxia • b) Chronic alcohol exposure leads to significant cerebellar hemisphere atrophy with relative sparing of midline structures • c) Chronic alcohol exposure predominantly leads to atrophy of midline cerebellar structures, such as the vermis • d)Thiamine deficiency leads to memory loss and eye movement abnormalities, but not ataxia 43
- 44. 44
- 45. Localization of cerebellar lesions Gait ataxia Limb ataxia Dysarthria Titubation Action tremor 45 Anterior vermis Lateral hemispheres Posterior left hemisphere & vermis Ant. Vermis & associated deep nuclei Dentate nuclei, or cerebellar outflow to ventral thalamus
- 46. Localization of cerebellar lesions Palatal tremor Saccadic dysmetria Square wave jerks Gaze evoked nystagmus Higher cognitive changes 46 Dentate nucleus, Guillain Mollaret triangle Dorsal vermis Cerebellar outflow Flocculus & paraflocculus Lateral hemispheres
Editor's Notes
- Genetic analyses should be directed according to the frequency of genetic subtypes in the relevant ethnic background (figure 1) and with regard to clinical features (table 4). Accordingly a pragmatic approach is developed and practiced at aiims . Because of the huge phenotypic variability of most SCA subtypes A third of families with ADCA are genetically undefined even after having tested the full panel of SCA gene defects.