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Clinical features of FOSMN syndrome in Korea: A comparative analysis with bulbar-onset amyotrophic lateral sclerosis.
J Neurol Sci
December 2024
Department of Neurology, Seoul National University Hospital, Seoul, Republic of Korea; Department of Translational Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea; Wide River Institute of Immunology, Seoul National University, Hongcheon, Republic of Korea; Neuroscience Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:
Facial onset sensory and motor neuronopathy (FOSMN) syndrome is a rare neurodegenerative disorder initially characterized by facial sensory deficits, which later progress to motor deficits in a rostral-caudal distribution. This study investigated the prevalence, clinical features, and prognosis of FOSMN syndrome and compared these aspects with those of bulbar-onset amyotrophic lateral sclerosis (ALS) within a single institutional cohort of motor neuron diseases. We identified four patients with FOSMN syndrome who had been misclassified as having bulbar-onset ALS, representing approximately 2 % of such ALS cases.
View Article and Find Full Text PDFSpectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.
Clin Neurophysiol
December 2024
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.
Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.
Heliyon
November 2024
Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog (JPARC) - Lille Neuroscience and Cognition, F-59000, Lille, France.
Pseudohypoaldosteronism type II is a rare Mendelian disorder characterized by hypertension, hyperkalemia, hyperchloremia and metabolic acidosis, despite a normal glomerular filtration rate. Four genes (, , and ) are associated with this disease. Mutations in the gene cause pseudohypoaldosteronism type II in either an autosomal dominant or a recessive inheritance pattern.
View Article and Find Full Text PDFEarly Peripheral Nerve Involvement at the Time of Coughing in Patients With Intronic Expansion.
Neurol Genet
August 2024
From the Neurology Department (S.F., L.M.), University Hospital of Limoges; UR20218-NEURIT (S.F., P. Chazelas, L.M., A.-S.L.), University of Limoges; Biochemistry and Molecular Genetic Department (P. Chazelas, A.-S.L.), University Hospital of Limoges; Neurology Department (P. Cintas, P.G.); Department of Respiratory Medicine (D.B., L.G.), University Hospital of Toulouse; Neurology Department (L.E.), Cahors Hospital; and Department of Respiratory Medicine (B.M.), University Hospital of Limoges, France.
Objectives: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome results from variations in and is mostly caused by intronic biallelic pathogenic expansions (RE-). Refractory chronic cough (RCC) is frequently observed for years to decades preceding ataxia onset. Whether peripheral nerves are involved in the presymptomatic phase characterized by RCC is uncertain.
View Article and Find Full Text PDFUniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Eur J Hum Genet
November 2024
Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Friedreich's Ataxia (FRDA) is the most common hereditary ataxia and is mainly caused by biallelic GAA repeat expansion in the FXN gene. Rare patients carrying FXN point mutations or intragenic deletions are reported. We describe the first FRDA patient with a chromosome 9 segmental Uniparental isoDisomy (UPiD) unmasking a homozygous FXN expansion initially undetected by TP-PCR.
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