Hereditary Neurological Disorders

Extensive In Silico Analysis of ATL1 Gene: Discovered Five Mutations that may Cause Hereditary Spastic Paraplegia Type 3A

The paper analyzes nsSNPs in the ATL1 gene using bioinformatics tools to identify five deleterious mutations potentially linked to SPG3A and their implications for pharmacogenomics.

Distant homologies and domain conservation of the Hereditary Spastic Paraplegia protein SPG11/ALS5/spatacsin

The paper identifies conserved regions of the SPG11 protein and their potential functions in intracellular trafficking, linking them to disease mechanisms in hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy.

Physical activity in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional case-controlled study

This study finds that children and adolescents with Charcot-Marie-Tooth disease (CMT) are less physically active than typically developing peers, with activity levels linked to disease severity and mobility.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.

Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans

This study shows that disrupting CMT2-associated genes in C. elegans causes similar movement, muscle, and neuromuscular junction defects.

Direct binding of the flexible C-terminal segment of periaxin to β4 integrin suggests a molecular basis for CMT4F

The paper identifies β4 integrin as a binding partner for the C-terminal region of periaxin, revealing its role in linking Schwann cells to the basal lamina in myelination.

Combinatorial Treatment Increases IKAP Levels in Human Cells Generated from Familial Dysautonomia Patients

The paper shows that combining PS with kinetin or TSA increases IKAP levels in FD patient-derived cells, suggesting different pathways, while pridopidine adds to these effects but not with PS, indicating shared mechanisms.

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

This study identifies a homozygous TRPV4 mutation as a cause of congenital spinal muscular atrophy and arthrogryposis through whole exome sequencing and functional analysis.

Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR

This study shows that LRSAM1 deregulation reduces levels of TSG101, UBE2N, VPS28, MDM2, and EGFR in cell models of CMT2P.

Genomic, Ancestral and Networking Analyses of a High-Altitude Native American Ecuadorian Patient with Congenital Insensitivity to Pain with Anhidrosis

The paper performs genomic, ancestral, and networking analysis on a high-altitude Ecuadorian CIPA patient, identifying NTRK1 mutations and associated variants.

CMT disease 2A and demyelination decouple ATP and ROS production by axonal mitochondria

The paper investigates how ATP and ROS production in axonal mitochondria differ under normal and neuropathic conditions, finding they become decoupled in disease states.

A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

Neuregulin 1 type III reduces severity in a mouse model of Congenital Hypomyelinating Neuropathy

This study shows that increasing neuregulin 1 type III in neurons improves myelination in a mouse model of congenital hypomyelinating neuropathy without relying on Egr2 or typical myelin genes.

Enhanced axonal Neuregulin-1 type-III signaling ameliorates disease severity in a CMT1B mouse model

This study shows that enhancing Nrg1TIII signaling reduces disease severity in a CMT1B mouse model by rebalancing myelin lipids and proteins, not through myelin gene upregulation.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.

Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular development and homeostasis

The paper shows that mutant GlyRS disrupts Nrp1/VEGF-A signaling but does not affect vascular development or maintenance in CMT2D mice.