TL;DR
This case underscores the clinical relevance of whole-exome sequencing in patients with overlapping syndromic features and supports a possible founder effect in this population of Mexican ancestry.
This study aimed to analyze the clinical phenotypes, neurophysiological characteristics, and pathogenicity of gene variants in a pedigree with distal hereditary motor neuropathy (dHMN) caused by VRK1 variants, and to provide evidence to support clinical diagnosis and genetic counseling for this disease. We report a Chi...
We report a 41-year-old man of African descent from the Northern Minas Gerais/Jequitinhonha Valley region of Brazil — historically characterized by geographic isolation, predominantly Afro-Indigenous ancestry, and structural consanguinity — born to first-degree cousin parents, who presented with progressive axonal sens...
The findings expand the clinical and genetic spectrum of SIGMAR1-associated disease and support its classification as dHMN rather than ALS, particularly in patients with dHMN accompanied by pyramidal features.
PLA2G6-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative spectrum encompassing infantile, juvenile/atypical and adult-onset phenotypes. Juvenile PLAN may initially resemble autism spectrum disorder or nonspecific developmental regression, delaying diagnosis. We describe a 14-year-old boy a...
Ataxia–telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, characterized by progressive cerebellar ataxia, telangiectasias, immunodeficiency, and increased cancer risk Reporting the phenotypic spectrum of ATM variants is essential to refine genotype–phenotype correlations. W...
Terminal deletions involving chromosome 14q32 are exceptionally rare and associated with variable neurodevelopmental phenotypes. We report a female child with fetal growth restriction, axial hypotonia, global developmental delay, delayed motor acquisition, and characteristic craniofacial dysmorphisms, including high fo...
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