DISEASES THAT
MIMIC MSA

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, MD

Defeat MSA Consulting Neurologist – Movement Disorder

Moscow, Russia