Hereditary spastic paraplegia - Open Access .click

Results 101 to 110 of about 132,494 (221)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2045-2058, September 2026.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer +6 more
wiley +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, Volume 41, Issue 9, Page 2476-2489, September 2026.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

, 2019
Background Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype associated with classical features of mitochondrial diseases, including ataxia, progressive external ophthalmoplegia, and ...
Jon Infante +53 more
core +1 more source

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series

Annals of Clinical and Translational Neurology
Autosomal‐dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of ...
Alexandra K. Brooks +5 more
doaj +1 more source

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li +6 more
wiley +1 more source

Quantitative Spatiotemporal Analysis of Ultrasound Images of Fasciculations in ALS

Muscle &Nerve, Volume 74, Issue 3, Page 644-655, September 2026.
ABSTRACT Introduction/Aims Fasciculations are a hallmark of amyotrophic lateral sclerosis (ALS), yet quantitative description of individual events on muscle ultrasound (MUS) is limited. We characterized the spatiotemporal kinematics of individual fasciculations to determine whether they differ between ALS and other neurogenic conditions.
Ryosuke Sugisawa +7 more
wiley +1 more source

Hereditary spastic paraplegia with SPG30 mutation: a report from North East China

, 2017
Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the nervous system. It is classified into four subtypes based on the mode of inheritanceand among them, most autosomal recessive hereditary spastic ...
Husna Zayadi
core

Hereditary spastic paraplegias

Neuromuscular Diseases
Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinical signs hereditary spastic paraplegias are divided into uncomplicated (classic) and complicated forms ...
R. F. Kutlubaeva +4 more
openaire +2 more sources

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source

New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia

Biomédica: revista del Instituto Nacional de Salud
Hereditary spastic paraplegias are genetic disorders characterized by spasticity in the lower limbs, weakness, and sensory disturbances. Global prevalence ranges from 1.27 to 9.6 per 100 000 individuals.
Nicolás Laverde-Sudupe +4 more
doaj +1 more source

3. good health
paraplegia
female

diagnosis, differential
male
mutation

neurosciences
adult
genes, dominant