2016
DOI: 10.1016/j.jns.2016.08.035
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Abstract: We aimed to identify the genetic cause of neurological disease in an Iranian pedigree whose manifestations suggested hereditary motor and sensory neuropathy with proximal predominance (HMSN-P). Identification of a p.Gly269Val mutation in TFG, the known HMSN-P causative gene, provided supportive evidence. Subjective, biochemical, electrodiagnostic, and imaging data were compared with previously reported HMSN-P patients, including patients of an earlier described Iranian pedigree. Although notable clinical varia… Show more

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Cited by 10 publications
(11 citation statements)
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References 22 publications
(45 reference statements)
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“…Clinically, a high incidence of glucose intolerance (7 with non-insulin-dependent diabetes mellitus (NIDDM) and 4 with impaired glucose tolerance (IGT) among 16 patients) was reported in patients with HMSN-P 13 , and two heterozygous missense mutations of TFG have been identified to date as being causative 68 . Given that the heterozygous TFG mutation is sufficient to cause HMSN-P and that TFG-positive cytoplasmic inclusions were observed in the motor neurons of one patient 6 , glucose intolerance in HMSN-P patients might be attributable to the cytotoxicity of abnormal TFG rather than to lack of TFG function as shown in our study.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Clinically, a high incidence of glucose intolerance (7 with non-insulin-dependent diabetes mellitus (NIDDM) and 4 with impaired glucose tolerance (IGT) among 16 patients) was reported in patients with HMSN-P 13 , and two heterozygous missense mutations of TFG have been identified to date as being causative 68 . Given that the heterozygous TFG mutation is sufficient to cause HMSN-P and that TFG-positive cytoplasmic inclusions were observed in the motor neurons of one patient 6 , glucose intolerance in HMSN-P patients might be attributable to the cytotoxicity of abnormal TFG rather than to lack of TFG function as shown in our study.…”
Section: Discussionmentioning
confidence: 99%
“…On the other hand, TFG was recently identified as a causative gene for several neurodegenerative diseases, such as hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) 68 , the axonal type of Charcot-Marie-Tooth disease 9 and hereditary spastic paraplegia (HSP) 1012 . Among HMSN-P patients, high incidences of diabetes mellitus and dyslipidemia have been reported 13 , yet nothing is known about the role of TFG in the regulation of glucose or lipid metabolism.…”
Section: Introductionmentioning
confidence: 99%
“…Clinical descriptions in the more recently diagnosed patients from Iran emphasized variability in presentations. For example, presence of prominent effects on sensory nerves, comparable involvement of proximal and distal muscles, cranial nerve involvement, and rapid progression were observed in some patients (Alavi et al, ; Khani, Shamshiri, Alavi, Nafissi, & Elahi, ). Pattern of disease inheritance in all families identified was autosomal dominant.…”
Section: Introductionmentioning
confidence: 96%
“…A c.854C>T mutation in TFG that causes p.(Pro285Leu) was identified in all HMSN‐P families of the Far East and in one of the Iranian families. A different mutation in TFG (c.806G>T) that causes p.(Gly269Val) was identified in the second Iranian HMSN‐P pedigree (Khani et al, ). Interestingly, the same p.(Gly269Val)‐causing mutation had recently been reported as cause of CMT2 in a Taiwanese pedigree (Tsai et al, ).…”
Section: Introductionmentioning
confidence: 99%
“…7 Metabolic impairment due to the presence of altered mitochondrial network and inner membrane potential was proposed in TFG-related infantile neuroaxonal dystrophy "plus" syndrome. 8 Mutations in TFG have been reported to be associated with several distinct neurologic diseases, including the p. Pro285Leu variant-associated hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) in Japanese Okinawa origin families 9,10 and Iranian families, 11 the p.Gly269Val variant-associated autosomal dominant type of Charcot-Marie-Tooth disease type 2 (CMT2) in a Taiwanese family 12 and HMSN-P in a single Iranian family, 13 the homozygous variant c.316C > T associated with a complicated hereditary spastic paraplegia in Indian families 14,15 and infantile neuroaxonal dystrophy "plus" syndrome in a Italian family. 8 Two missense mutations associated with sporadic amyotrophic lateral sclerosis were discovered.…”
Section: Introductionmentioning
confidence: 99%