Diseases That Mimic MSA
Genetic MSA-Mimicking Diseases, Subtypes & Other Disorders
Ataxias
1. Spinocerebellar Ataxias (Genetic Forms)
2. Dentatorubral-pallidoluysian atrophy (DRPLA)
3. fragile X-associated tremor/ataxia syndrome (FXTAS)
4. Friedreich Ataxia (FRDA)
5. Ataxia-oculomotor apraxia syndrome (AOA)
6. Ataxia with vitamin E deficiency (AVED)
7. Marinesco Sjogren syndrome (SIL1 mutation)
8. Alexanders syndrome
Parkinsonism
1. Parkinsonism
2. Perry syndrome
3. Huntington’s disease
4. Familial Parkinson’s Disease with the SNCA gene (FPD)
5. Familial Parkinson’s Disease with the LRRK2 gene (FPD)
6. Familial Parkinson’s Disease with the GBA gene (FPD)
7. X-linked adrenoleukodystrophy (ABCD1 mutation)
Spastic gait
1. Hereditary Spastic Paraplegia (HSP)
2. Hereditary Spastic Paraplegia Paraplegin (SPG7)
3. Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum (SPG11)
4. Primary Lateral Sclerosis (PLS)
Complex phenotypes
1. Mitochondriopathy
2. Cerebrotendinous xanthomatosis
3. Prion disease
4. C9ORF72 mutation
Other Disorders (Non-Acquired)
1. Dementia with Lewy Bodies
2. Progressive Supranuclear Palsy
3. Parkinson’s Disease
4. Pure autonomic failure (however there are some ideas that this entity is a spectrum)
5. Corticobasal degeneration
6. Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)
7. Vascular parkinsonism
8. Normal pressure hydrocephalus
9. Prion disorder (genetic or sporadic)
Other Disorders (Acquired)
1. Whipple’s disease
2. Extrapontine myelinolysis
3. Paraneoplastic cerebellar degeneration
4. Alcoholic cerebellar degeneration
5. Drug-induced cerebellar degeneration
6. Gluten Ataxia
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 in English or Spanish.
Alphabetical List of Rare Diseases National Organization of Rare Diseases (NORD)
Prepared By:
Dr. Oybek E. Turgunkhujaev, Neurologist, Movement Disorders, Director, Complex Diagnostics, Semeynaya Clinic, Moscow, Russia;