Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation has been described.
This study highlights phenotypic heterogeneity characterizing individuals carrying the same pathogenic variant in TFG and provides an insight on tight connection linking mitochondrial efficiency and neuronal health to vesicular trafficking.
Differences in the severity of the disorder as well as new clinical findings. These include presence of clonus undeveloped speech and sleep disturbances. these findings extend the phenotypic spectrum associated with the TFG mutations in Hereditary spastic paraplegia.
The results suggest that ALG-2 acts as a Ca2+-sensitive adaptor to concentrate and polymerize TFG at endoplasmic reticulum exit sites supporting a potential role for ALG-2 in COPII-dependent trafficking from the endoplasmic reticulum.
This study finding p.Gly269Val in a newly identified Iranian pedigree affected with hereditary motor and sensory neuropathy with proximal predominance.
We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57 SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel.
Results identified two TFG variants associated with hereditary spastic paraplegias (HSP) (c.316C>T and c.317G> A) confirming the causal nature of bi-allelic TFG mutations for HSP and suggest that that mitochondrial impairment represents a pathomechanistic link to other neurodegenerative conditions.
TFG functions at the endoplasmic reticulum (ER)/ER-Golgi intermediate compartments (ERGIC) interface to locally concentrate COPII-coated transport carriers and link exit sites on the ER to ERGIC membranes.
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