Jul 2026· Journal of the peripheral nervous system· Vol 31· 1 citation· 29 references
Medicine
TL;DR
Variants in the VRK1 gene, originally described in association with pontocerebellar hypoplasia, are now known to produce a broad clinical spectrum, including amyotrophic lateral sclerosis, dHMN, and less frequently, spastic paraplegia.
Abstract
Hereditary motor neuropathies (HMN) represent a heterogeneous group of disorders with wide clinical and genetic variability. Despite advances in molecular diagnostics, approximately 50% of cases remain genetically unresolved, particularly those where distinguishing length‐dependent motor neuropathy from motor neuron disorder with disproportionate segmental involvement is a challenge. Variants in the VRK1 gene, originally described in association with pontocerebellar hypoplasia, are now known to produce a broad clinical spectrum, including amyotrophic lateral sclerosis, dHMN, and less frequently, spastic paraplegia.
Increasing evidence suggests that ATXN2-related disorders represent a clinical spectrum with variable presentations. We report a 70-year-old Chinese man carrying an ATXN2 allele with 34 CAG repeats (20/34 repeats). Cerebellar atrophy was incidentally noted on magnetic resonance imaging (MRI) more than ten years before...
Xin Huang, Yan Ma, Xin-Ran Ma et al.· Neurological Sciences· 0 citations
The potential role of PTEN in the pathogenesis of parkinsonism is discussed, and the spectrum of reported neurological features of PHTS is expanded to include hitherto unreported levodopa-responsive parkinsonism.
Sacha E. Gandhi, R. Siripurapu, Audrey Smith et al.· Movement Disorders Clinical...· 0 citations
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, initially defined as a purely motor neuron disease (MND), marked by the progressive degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. Now it is recognized as a multisystem disease, with cognitive, gastrointestinal, a...
Priyanka V. Kashyap, Mayur Bhat, Dharmendra Singh et al.· Future Health· 0 citations
This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.
M. Kılıç, P. Dušek, Ibrahim Kamaci et al.· Annals of Clinical and Trans...· 0 citations
Biallelic mutations in the RFC1 gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain...
J. Machado, Jocelyn C. Zwicker, P. Bourque et al.· Journal of Neuromuscular Dis...· 0 citations
Electrophysiological studies revealed a generalized, asymmetric, multifocal demyelinating neuropathy with conduction blocks at atypical, non-compressive sites, consistent with multifocal acquired demyelinating sensory and motor neuropathy (MADSAM).
Ananya Sukhija, Lyubov P. Smertina· Cureus· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
