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Disease characteristics

Excerpted from the GeneReview: Fatty Acid Hydroxylase-Associated Neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), eye findings (optic atrophy, oculomotor abnormalities) early in the disease course, and progressive intellectual impairment and seizures later in the disease course. FAHN is considered to be a subtype of neurodegeneration with brain iron accumulation (NBIA). To date, a total of 25 individuals from seven families of diverse ethnicity with FAHN have been described; much is yet to be learned about the clinical manifestations and natural history.

Available tests

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Associated genes

Clinical features

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  • Babinski sign
  • Strabismus
  • Urinary urgency
  • Hyperreflexia
  • Dysmetria
  • Ankle clonus
  • Difficulty walking
  • Lower limb spasticity
  • Dysarthria
  • Intellectual disability
  • Hypoplasia of the corpus callosum
  • Mental deterioration
  • Seizure
  • Nystagmus
  • Abnormality of the periventricular white matter
  • Urinary incontinence
  • Dysmyelinating leukodystrophy
  • External ophthalmoplegia
  • Optic atrophy
  • Cerebellar atrophy
  • Spastic tetraparesis
  • Dystonia
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