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DISEASES THAT MIMIC MSA

GENETIC MSA-MIMICKING DISEASES,
SUBTYPES & OTHER DISORDERS ?

Ataxias

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

Parkinsonism

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)

Spastic gait

Hereditary Spastic Paraplegia (HSP)
Hereditary Spastic Paraplegia Paraplegin (SPG7)
Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum (SPG11)
Primary Lateral Sclerosis (PLS)

Autonomic failure

LMNB1 associated Leukodystrophy

Complex phenotypes

Mitochondriopathy
Cerebrotendinous xanthomatosis
Prion disease
C9ORF72 mutation

OTHER DISORDERS

Non-Acquired

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)

Acquired

Whipple’s disease
Extrapontine myelinolysis
Paraneoplastic cerebellar degeneration
Alcoholic cerebellar degeneration
Drug-induced cerebellar degeneration
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;