GENETIC MSA-MIMICKING DISEASES, SUBTYPES & OTHER DISORDERS
Ataxias
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- Spinocerebellar Ataxias (Genetic Forms)
- Dentatorubral-pallidoluysian atrophy (DRPLA)
- fragile X-associated tremor/ataxia syndrome (FXTAS)
- Friedreich Ataxia (FRDA)
- Ataxia-oculomotor apraxia syndrome (AOA)
- Ataxia with vitamin E deficiency (AVED)
- Marinesco Sjogren syndrome (SIL1 mutation)
- Alexanders syndrome
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Parkinsonism
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- Perry syndrome
- Huntington’s disease
- Familial Parkinson’s Disease with the SNCA gene (FPD)
- Familial Parkinson’s Disease with the LRRK2 gene (FPD)
- Familial Parkinson’s Disease with the GBA gene (FPD)
- X-linked adrenoleukodystrophy (ABCD1 mutation)
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Spastic gait
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- Hereditary Spastic Paraplegia (HSP)
- Hereditary Spastic Paraplegia Paraplegin (SPG7)
- Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum (SPG11)
- Primary Lateral Sclerosis (PLS)
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Autonomic failure
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- LMNB1 associated Leukodystrophy
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Complex phenotypes
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- Mitochondriopathy
- Cerebrotendinous xanthomatosis
- Prion disease
- C9ORF72 mutation
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OTHER DISORDERS
Non-Acquired
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- Dementia with Lewy Bodies
- Progressive Supranuclear Palsy
- Parkinson’s Disease
- Pure autonomic failure (however there are some ideas that this entity is a spectrum)
- Corticobasal degeneration
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)
- Vascular parkinsonism
- Normal pressure hydrocephalus
- Prion disorder (genetic or sporadic)
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Acquired
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- Whipple’s disease
- Extrapontine myelinolysis
- Paraneoplastic cerebellar degeneration
- Alcoholic cerebellar degeneration
- Drug-induced cerebellar degeneration
- Gluten Ataxia
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Search Directory of Genetic and Rare Diseases Information Center (GARD) provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases.
Prepared By:
Dr. Oybek E. Turgunkhujaev, Neurologist, Movement Disorders, Director, Complex Diagnostics, Semeynaya Clinic, Moscow, Russia;