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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 35

Summary

Excerpted from the GeneReview: Fatty Acid Hydroxylase-Associated Neurodegeneration
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).

Genes See tests for all associated and related genes

  • Also known as: FAAH, FAH1, FAXDC1, SCS7, SPG35, FA2H
    Summary: fatty acid 2-hydroxylase

Clinical features

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