Fatty Acid Hydroxylase-Associated Neurodegeneration
Aka Dysmyelinating leukodystrophy and spastic paraparesis, Spastic paraplegia 35, FAHN
Pathogenesis (Leukodystrophy, Fatty Acid Disorder)
- Fatty acid-2-hydroxylase deficiency leads to failure of hydroxylation of fatty acid to 2-hydroxylated fatty acid, which results in failure of myelin production: leukodystrophy.
Clinical
- Onset: Childhood
- Neurological Manifestations: Spastic Gait, Ataxia, Dystonia, Visuosensory & Visuomotor Deterioration, Oculobulbar Dysfunction (Dysphagia/Dysarthria).
- MRI Findings: Iron accumulation in the globus pallidus (similar to neurodegeneration with brain iron accumulation).
Genetics
- FA2H gene
- Autosomal recessive