Sporadic Ataxia: Diagnostic Plan

[Guest guest]

Reposting this.

>

>

> > The following is a summary of the presentation on Sporadic Ataxia

given by

> > Dr. Mark Hallett at a recent ataxia symposium. The presentation

was

> > intended for physicians and is a bit technical but I think a very

> > worthwhile summary for your own information. I have more

information on

> > many of the diseases mentioned or you can find out more yourself

via a web

> > search.

> >

> > I would encourage those of you with an unknown form of ataxia to

follow up

> > with your doctors to find out exactly which tests you have had.

There is a

> > diagnositic plan at the end which Dr. Hallett recommends be

followed

> > inorder to pinpoint the cause of sporadic ataxias. Please share

this

> > information with your doctor.

> >

> >

> > Good luck with finding a diagnosis.

> >

> >

> > Regards,

> > Pam

> >

> >

> > -----

> >

> >

> > Recent Advances in Inherited Ataxias Symposium

> > National Institutes of Health

> > Bethesda, land USA

> > March 27, 1998

> >

> >

> > SPORADIC ATAXIA

> > Presented by Mark Hallett, M.D.

> >

> >

> > Many types of Sporadic Ataxia are due to a known cause which is

included

> in

> > the following categories. There are many patients however who

still cannot

> > be classified at this time.

> >

> >

> > 1. Degenerative

> > 2. Stroke

> > 3. Tumor

> > 4. Toxic/Metabolic

> > 5. Paraneoplastic

> > 6. Auto Immune

> > 7. Infectious/Post Infectious

> > 8. Demyelinating

> >

> >

> > -----

> >

> >

> > 1. DEGENERATIVE

> >

> >

> > These types of sporadic ataxia include:

> >

> >

> > A. MULTIPLE SYSTEM ATROPHY (MSA) is the most common and has three

> > variations:

> >

> > i. Olivopontocerebellar atrophy (OPCA) - more cerebellar signs

(ataxia)

> >

> > ii. Striatonigral Degeneration (SND) - more Parkinson's signs

> > (bradykinesia (slowness) and rigidity)

> >

> > iii. Shy-Drager Syndrome (SDS) - more autonomic signs

> >

> >

> >

> > - PRINCIPLE CLINICAL FEATURES of any of the 3 varieties can

include:

> > a. ataxia

> > b. parkinsonism

> > c. autonomic dysfunction

> > including:

> > - impotence which is a common first symptom in men

> > - dry hands (inability to sweat)

> > - orthostatic hypotension or postural blood pressure

> > (recommended to take blood pressure while patient is lying,

> > standing, and standing after 3 minutes)

> >

> > - VARIABLE CLINICAL FEATURES

> > a. pyramidal signs

> > b. poor response to levadopa

> > c. tremor

> > d. dysarthria

> > e. dystonia

> > f. mild dementia

> >

> >

> > - PATHOLOGICAL HALLMARK

> > a. Glial Cytoplasmic Inclusions (GCIs) - this is a recent finding

> > which can be seen upon autopsy in the brain of MSA patients.

> >

> > - LAB WORK for MSA diagnosis

> > a. Autonomic abnormalities

> > - skin sympathetic response (EMG)

> > - sweat test

> > - valsalva maneuver

> > - heart rate variation

> >

> > b. Sphincter EMG

> > (this is a good indicator especially in men)

> >

> >

> > c. MRI, MRS, PET scans

> >

> >

> >

> > B. PROGRESSIVE MYOCLONIC EPILEPSY

> > - ataxia is a prominent feature

> >

> >

> >

> > 2. STROKE

> >

> >

> > Several types of stroke can cause the symptoms of ataxia.

> >

> >

> >

> > 3. TUMORS

> >

> > - At least seven types.

> > - MRI scan is the best diagnostic tool.

> >

> >

> >

> > 4. TOXIC/METABOLIC

> >

> >

> > A. Alcoholism

> >

> >

> > B. Post-hypoxic, hyperthermia

> >

> >

> > C. Celiac Disease (Gluten Sensitivity), anti-gliadin antibodies

> >

> > - Ataxia plus or minus myoclonus

> > - Gluten sensitive enteropathy with malabsorption

> > - Ataxia can progress despite good diet

> > - Possible autoimmune disorder with antibodies formed against

gluten

> >

> >

> > - LAB WORK for Gluten Sensitivity diagnosis:

> > - look for anti-gliadin antibodies in ataxias of unknown origin

> >

> >

> > D. Childhood hyperammonemas

> >

> >

> > E. Vitamin Deficiencies

> >

> >

> > 1. Thiamine (B1)

> > 2. B12

> > 3. E

> > 4. Zinc

> >

> >

> > - Ataxia due to vitamin deficiencies are treatable and should not

be

> > overlooked in diagnostic workup.

> >

> >

> > F. Endocrine

> >

> >

> > 1. Hypothyroidism

> > 2. Hypoparathyroidism

> > 3. Hypoglycemia (insulinoma)

> >

> >

> > G. Drugs/Toxins

> >

> > 1. Drugs

> > a. Phenytoin

> > b. Lithium

> > c. Serotonin syndromes

> > d. Cyclosporin

> >

> >

> > 2. Toxins

> > a. Thallium, Bismuth subsalicylate

> > b. Methylmercury, methylbromide

> > c. Toluene

> >

> >

> >

> > 5. PARANEOPLASTIC

> >

> >

> > These ataxias are related to cancer. Various antibodies are

detectable:

> >

> >

> > A. Anti-Purkinje cell antibody

> > 1. Anti-Yo (tumor of breast or ovary)

> > 2. Atypical anti-cytoplasmic antibody (Hodgins, lung, colon)

> >

> >

> > B. Anti-neuronal antibody

> > 1. Anti-Hu (lung, breast, prostate)

> > 2. Anti-Ri (breast and ovary)

> > 3. Atypical Anti-Hu (lung, colon, adenocarcinoma, lymphoma)

> >

> >

> > C. Anti-CV2 antibody

> > - ataxia and optic neuritis

> > - small cell lung carcinoma

> > - CV2 antigen

> > - improvement with removal of tumor

> >

> >

> >

> > 6. AUTO IMMUNE

> >

> >

> > A. Antibodies to GAD (glutamine acid decarboxalese)

> > - pure ataxia syndrome

> > - possible peripheral neuropathy

> >

> >

> >

> > 7. INFECTIOUS/POST INFECTIOUS

> >

> > A. Encephalitis/meningitis

> > - Rubella, H. Influenza

> >

> >

> > B. Acute Post Infectious Cerebellitis

> > - Varicella (chicken pox)

> >

> >

> > C. Crutzfeld-Jakob Disease (CJD)

> >

> >

> >

> > 8. DEMYELINATING

> >

> >

> > A. Multiple Sclerosis (MS)

> >

> >

> >

> > 9. NON-CEREBELLAR ORIGIN

> >

> >

> > A. Neuropathies

> >

> >

> > 1. Fisher Syndrome (a form of Guillain-Barre Syndrome

(GBS))

> > 2. Paraneoplastic/autoimmune

> > 3. Idiopathic

> >

> >

> > B. Spinocerebellar tract lesions

> >

> >

> >

> > 10. OTHER

> >

> >

> > A. Chiari Malformation

> > B. Abscess

> > C. Hydrocephalus

> > D. Superficial CNS nemosiderosis

> >

> >

> >

> >

> > DIAGNOSTIC PLAN

> > ---------------

> >

> >

> > 1. Take a good history (including family history) and physical

exam

> > 2. Standard lab tests including lipids and thyroid

> > 3. MRI, PET, MRS

> > 4. Autonomic testing, sphincter EMG

> > 5. Genetic testing

> > 6. Toxic screen

> > 7. Vitamin levels (especially vitamin E)

> > 8. Anti-Yo, Anti-Ri, Anti-Hu (common tests)

> > 9. Anti-gliadin antibodies (not currently available as a routine

test)

> >

> >

> >

> > " Develop a passion for living and a wonderment toward what great

> > experiences may be ahead. " - Jim Todd

> >

> >

> >

> >

> >