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Hereditary spastic paraplegia 35

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Description

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later in the disease course by progressive intellectual impairment and seizures. With disease progression, dystonia and spasticity compromise the ability to ambulate, leading to wheelchair dependence. Life expectancy is variable. FAHN is considered to be a subtype of neurodegeneration with brain iron accumulation (NBIA).

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

87

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Genes

External Links

  • OMIM

    612319

  • Orphanet
  • HPO
  • Medgen

    C3496228

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