Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
This study adds p.His12Pro and confirmsPMP22 exon 4 deletion as causes of severe CMT, whereas the previously unknown splice variant p.Glu60Lys leads to mild axonal neuropathy. Our results suggest that GDF15 and NFL do not distinguish CMT1A from advanced hypertrophic neuropathy caused by rarePMP22 variants. (Source: Neurogenetics)
Source: Neurogenetics - August 22, 2023 Category: Genetics & Stem Cells Source Type: research

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
This study highlights the most common types as well as the genetic heterogeneity of LDs in Iranian children. (Source: Neurogenetics)
Source: Neurogenetics - August 19, 2023 Category: Genetics & Stem Cells Source Type: research

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
We report a family with calpain-related muscular dystrophy caused by two known variants in the calpain 3 gene (CAPN3, NM_000070.3; (I) c.700G>A, p.Gly234Arg and (II) c.1746-20C>G, p.?). Three family members are compound heterozygous and exhibit a relatively homogeneous phenotype characterized by progressive proximal weakness starting in the third to fourth decade of life in the shoulder girdle and spreading to the legs. Two family members affected only by the p.Gly234Arg heterozygous missense variants show a different phenotype characterized by severe exertional myalgia without overt pareses. We conclude that in our ...
Source: Neurogenetics - August 17, 2023 Category: Genetics & Stem Cells Source Type: research

Clinical and functional study of two de novo variations of CDKL5 gene
We described two children with DEE caused by de novo variations ofCDKL5 gene, analyzed their clinical manifestations, and performed genetic testing on their gene variation sites. The two cases presented with tonic seizures followed by epileptic spasms, indicative of refractory epilepsy. Physical examination revealed abnormal facial features, including wide eye distance, low nose base, and high nose bridge. Both cases exhibited developmental disabilities. Cranial magnetic resonance imaging (MRI) showed widening of the bilateral frontotemporal extracerebral space. Genetic testing identified variations at the gene sites c.463...
Source: Neurogenetics - August 16, 2023 Category: Genetics & Stem Cells Source Type: research

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
This study further validates WGS for the accurate molecular diagnosis of ID. (Source: Neurogenetics)
Source: Neurogenetics - July 31, 2023 Category: Genetics & Stem Cells Source Type: research

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
In this study, we identified three cases with SPG76, due to four variousCAPN1 mutations, presenting lower limb spasticity and ataxia, with or without bulbar involvement and emotional disorder. Among these, c.213dupG and c.1324G>A are first identified in this paper. The genotype-phenotype correlation of the SPG76 cases reported worldwide was further summarized. (Source: Neurogenetics)
Source: Neurogenetics - July 19, 2023 Category: Genetics & Stem Cells Source Type: research

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
This study aimed to illustrate the genetic characteristics of BIADs and clarify their molecular mechanisms. A total of 84 patients with BIADs were recruited from April 2018 to October 2022 at Xuanwu Hospital. Clinical characteristics including family history, consanguineous marriage history, and age at onset (AAO) were collected and assessed by two senior neurologists. Neuroimaging data were conducted for all the patients, including cranial magnetic resonance imaging (MRI) and susceptibility-weighted imaging (SWI). Whole-exome sequencing (WES) and capillary electrophoresis for detecting sequence mutation and trinucleotide ...
Source: Neurogenetics - July 15, 2023 Category: Genetics & Stem Cells Source Type: research