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EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
September 2023
Department of Molecular Genetics Pharmacogenomics and Hormonology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France.
Article Synopsis
- Mutations in the EGR2 gene are linked to several hereditary neuropathies, including types of Charcot-Marie-Tooth disease and congenital neuropathy.
- A study identified 14 patients with EGR2 mutations, revealing a mean age of 44 years and a disease duration of 28 years, with common symptoms like pes cavus and distal limb weakness in all cases.
- The results show that EGR2-related neuropathies are rare progressive conditions that can present in childhood or adulthood, often misdiagnosed as inflammatory neuropathies, and include a range of previously unreported mutations.
A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant.
Rev Neurol (Paris)
October 2023
Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:
Hereditary neurological disorders represent a wild group of hereditary illnesses affecting mainly the nervous system, the majority of which have a Mendelian inheritance pattern. Here we present the case of two Moroccan patients each affected by a different hereditary neurological disorder. In the first patient WES analysis revealed the presence of the p.
View Article and Find Full Text PDFIs the unstable ataxic hand of Alajouanine and Akerman a distinct contribution?
Rev Neurol (Paris)
October 2021
Instituto de Neurologia Deolindo Couto and Instituto de Psiquiatria - Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
We discuss from a historical perspective whether the 1931 description of the "unstable ataxic hand" by Théophile Alajouanine, the fifth successor of Charcot at la Salpêtrière, and the Brazilian neurologist Abraham Akerman, then studying in France, merits being considered a distinct contribution vis-à-vis the earlier description by Oppenheim of the "useless hand syndrome". The specific object of the article by Alajouanine and Akerman was a semiologic sign, namely a pseudoathetosis localized in the hand, while the original description by Oppenheim of the symptom-complex that came to be known as useless hand syndrome did not include an abnormal movement. Moreover, as a result of the useless hand syndrome originating from a clinical classification of multiple sclerosis based on the localization of the lesions, it involves topographic and etiologic diagnoses specificities.
View Article and Find Full Text PDFDejerine Hand Phenomenon.
JAMA Neurol
August 2015
Neurosurgery Department, University Hospital Germans Trias i Pujol, Barcelona, Spain.
Early onset (childhood) monogenic neuropathies.
Handb Clin Neurol
April 2014
Department of Pediatric Neurology, CHU Paris sud, Hôpital Bicêtre, Paris, France. Electronic address:
Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders.
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