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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-04-2013
Symbol SPG35
Location 16q23.1
HGNC id 21197
Name spastic paraplegia 35
Corresponding gene FA2H
Main clinical features
  • spastic paraplegia, onset between 6 and 11 years with foot drop and difficulty walking, rapid progression over the following 2 to 4 years with steadily increasing lower and then upper limb spasticity with hyperreflexia and extensor plantar responses, resulting in complete dependence by age 25
  • variable features included dysarthria, ankle clonus, and increased muscle tone in the lower limbs
  • associated with intellectual disability and seizures; at IRM of the brain, white matter abnormalities suggestive of a leukodystrophy.
  • Age at onset < 5 years, sever lower and upper limbs spasticity and amyotrophy, marked bilateral ankle clonus and bilateral Babinski signs, severe dystonia, mild ataxia, dysarthria, dysphagia, urinary and fecal incontinence, severe leukoencephalopathy with cortical, cerebellar, and brainstem atrophy, hypointensity of globus pallidus, thin corpus callosum, epilepsy and nystagmus PMID:23566484
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name fatty acid 2-hydroxylase
    Gene mutationChromosome rearrangementEffectComments
    missense     c.968C>A; p.P323Q c.976G>A; p.G326S and c.688G>A; p.E230K PMID:23566484