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.

 

Prepared By:

Dr. Oybek E. Turgunkhujaev, Neurologist, Movement Disorders, Director, Complex Diagnostics, Semeynaya Clinic, Moscow, Russia;