Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders"
DOI: 10.1002/mds.28612
Abstract: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. read more here.
Keywords: saguenay arsacs; charlevoix saguenay; spastic ataxia; ataxia charlevoix ... See more keywords
POLR3A-related spastic ataxia: new mutations and a look into the phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09574-9
Abstract: Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic,… read more here.
Keywords: new mutations; spastic ataxia; polr3a related; ataxia new ... See more keywords
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2017.05.009
Abstract: Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with… read more here.
Keywords: ataxia hypomyelination; nkx6 cause; ataxia; spastic ataxia ... See more keywords
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103868
Abstract: Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystrophy have been reported in few families around the world. In this study, we performed Whole Exome Sequencing and identified a… read more here.
Keywords: ataxia type; spastic ataxia; expanding clinical; nkx6 related ... See more keywords
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.07.013
Abstract: Ataxia refers to a group of neurological disorders characterized by a lack of coordination during voluntary movements. One of the most commonly used tests to assess upper-limb coordination is the Archimedes spiral test. The purpose… read more here.
Keywords: computer based; ataxia; spastic ataxia; autosomal recessive ... See more keywords
A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
Sign Up to like & getrecommendations! Published in 2020 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddz318
Abstract: Abstract Mutations in each of the four human VPS13 (VPS13A–D) proteins are associated with distinct neurological disorders: chorea-acanthocytosis, Cohen syndrome, early-onset Parkinson’s disease and spastic ataxia. Recent evidence suggests that the different VPS13 paralogs transport… read more here.
Keywords: yeast vps13; spastic ataxia; vps13; vab domain ... See more keywords
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096221139670
Abstract: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. Other manifestations include dysarthria, weakness in lower extremities and distal muscle wasting, foot deformities,… read more here.
Keywords: recessive spastic; charlevoix saguenay; ataxia charlevoix; spastic ataxia ... See more keywords
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
Sign Up to like & getrecommendations! Published in 2017 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x20170044
Abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal… read more here.
Keywords: charlevoix saguenay; ataxia; spastic ataxia; ataxia charlevoix ... See more keywords
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.783762
Abstract: The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure… read more here.
Keywords: cerebellar atrophy; variants gemin5; gemin5; biallelic variants ... See more keywords
A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.812640
Abstract: The SPG7 gene encodes the paraplegin protein, an inner mitochondrial membrane—localized protease. It was initially linked to pure and complicated hereditary spastic paraplegia with cerebellar atrophy, and now represents a frequent cause of undiagnosed cerebellar… read more here.
Keywords: family; variant; spg7 gene; spastic ataxia ... See more keywords
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14020328
Abstract: Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM:… read more here.
Keywords: charcot marie; family; charlevoix saguenay; ataxia charlevoix ... See more keywords