Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation

Two Novel Biallelic Variants in TECPR2 and FA2H Genes Causing Complicated Hereditary Spastic Paraplegia in Iranian families from lur Ethnicity: Case Series.

“…They are generally characterized by progressive and length-dependent degeneration of distal retrograde axons of the corticospinal tracts (CST) and posterior columns of the spinal cord. [1][2][3] Clinically, these conditions share the primary symptoms of progressive spasticity, hyperreflexia and mild weakness of the lower limbs in the "Pure" form. In the "complicated/complex" form, additional symptoms such as peripheral nerve involvement, extrapyramidal disturbances, cerebellar ataxia, polyneuropathy, cognitive impairment, optic atrophy and seizures might be added.…”

Two novel biallelic variants in TECPR2 and FA2H genes causing complicated hereditary spastic paraplegia in Iranian families from Lur ethnicity: Case series

“…Hereditary spastic paraplegia (HSPs) refers to a heterogeneous group of rare inherited neurodegenerative disorders. They are generally characterized by progressive and length‐dependent degeneration of distal retrograde axons of the corticospinal tracts (CST) and posterior columns of the spinal cord 1‐3 . Clinically, these conditions share the primary symptoms of progressive spasticity, hyperreflexia, and mild weakness of the lower limbs in the “Pure” form.…”

Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features

“…In the literature, a few cases have been reported with HSP type 35. [ 3 4 5 6 ] Here, we report HSP type 35 case of Turkish origin with a novel homozygous mutation in FA2H gene, presented with progressive gait disturbance and cognitive impairment.…”

“…Bektaş et al . [ 6 ] described a 5-year-old boy presenting with spastic paraplegia without seizure, neuropathy, cognitive impairment, speech disturbance, and optic atrophy in Turkey. Their patient was rapid progressive spastic paraplegia, and he was early loss of ambulation.…”

“…Bektaş et al . [ 6 ] detected a novel homozygous mutation c. 160_169 dup (p. Asp57Glyfs*48) in the gene encoding FA2H in their case in Turkey. We detected novel homozygous mutation c.130C>T (p. Pro44Ser) (p. P44S) in the FA2H gene.…”