Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype

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

“…[6][7][8][9] Considering the substantial role of the enzyme in the maintenance of the myelin sheath around neuronal axons, deficiency of its coding gene can manifest diverse demyelinating phenotypes such as dysmyelinating, leukodystrophy associated cognitive decline, dysarthria, spastic paraparesis with or without dystonia and neurodegeneration with brain iron accumulation (NBIA). [10][11][12][13][14] Although the frequency of FA2H mutations in patients with HSPs has been obscure at least in Asia, it was considered as the second most common subtype of AR-HSP. 5 SPG35 has early onset and shows heterogeneous neuroimaging patterns such as a variable degree of white matter lesions (WMLs), thin corpus callosum, cortical and cerebellar atrophy and iron accumulation in the globus pallidus.…”

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

“…These compounds show particular temporal expression pattern and are unessential in early development, but are required as the individual matures 6‐9 . Considering the substantial role of the enzyme in the maintenance of the myelin sheath around neuronal axons, deficiency of its coding gene can manifest diverse demyelinating phenotypes such as dysmyelinating, leukodystrophy‐associated cognitive decline, dysarthria, spastic paraparesis with or without dystonia, and neurodegeneration with brain iron accumulation (NBIA) 10‐14 . Although the frequency of FA2H mutations in patients with HSPs has been obscure at least in Asia, it was considered as the second most common subtype of AR‐HSP 5 .…”