Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed a next-generation sequencing (NGS) analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay, POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. In addition, we found a novel homozygous MTCL1 loss of function variant p.(Lys407fs) in a 23-year-old patient with slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs. The identified variant is predicted to truncate the protein after first 444 of 1586 amino acids. MTCL1 encodes a microtubule-associated protein highly expressed in cerebellar Purkinje cells; its knockout in a mouse model causes ataxia. We propose MTCL1 as a candidate gene for autosomal recessive cerebellar ataxia in humans. In addition, our study confirms the high diagnostic yield of NGS in early-onset cerebellar ataxias, with at least 50% detection rate in our ataxia cohort.
Aims: The aim of this study was to investigate the whole-brain asymmetry changes in spinocerebellar ataxia type 3 (SCA3) and their association with movement disorders.
Methods: Voxel-based morphometry (VBM) was used to assess asymmetry in gray matter (GM) volume in 83 genetically confirmed SCA3 patients and 83 sex- and age-matched healthy controls (HCs). The asymmetry index (AI) was analyzed for partial correlation with disease severity, as measured by the Scale for Assessment and Rating of Ataxia (SARA) and International Cooperative Ataxia Rating Scale (ICARS).
Department of Clinical Neurophysiology, Vall d'Hebron University Hospital, Passeig de la Vall d'Hebron, 119, 08035 Barcelona, Spain. Electronic address:
Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.
Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.
Department of Applied Chemistry and Life Sciences, Graduate School of Engineering, Toyohashi University of Technology, Toyohashi, Aichi 441-8580, Japan; Center for Diversity and Inclusion, Toyohashi University of Technology, Toyohashi, Aichi, 441-8580, Japan. Electronic address:
Concerns have been raised regarding acetamiprid (ACE), a neonicotinoid insecticide, due to its potential neurodevelopmental toxicity. ACE, which is structurally similar to nicotine, acts as an agonist of nicotinic acetylcholine receptors (nAChRs) and resists degradation by acetylcholinesterase. Furthermore, ACE has been reported to disrupt neuronal transmission and induce developmental neurotoxicity and ataxia in animal models.
Background: Anti-glutamate kainate receptor subunit 2 (anti-GluK2) antibodies mediated encephalitis is very rare in both children and adults. This study aimed to describe the second report of the anti-GluK2 encephalitis worldwide, the first youngest patient worldwide, and the first case ever in Asia. Besides, this study provides a summary of the clinical manifestations of all previous reported cases.
Background: Episodic ataxias (EAs) are a rare group of paroxysmal movement disorders (PMD) described in human medicine with only one suspected case described in veterinary literature.
Hypothesis/objectives: This study aimed to provide clinical description of a suspected primary EA in working Cocker Spaniel (WCS) dogs.
Animals: Seven WCS dogs with suspected primary EA.
