A novel mutation in

Humans Male Adult Cerebellar Ataxia / diagnosis Ubiquitin-Protein Ligases / genetics Ataxia / genetics Hypogonadism / diagnosis Mutation Spinocerebellar Degenerations Ubiquitin-Specific Proteases / genetics
Neuro genetics Neuroimaging

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
17 Nov 2023
Historique:
pmc-release: 17 11 2025
medline: 20 11 2023
pubmed: 18 11 2023
entrez: 17 11 2023
Statut: epublish

Résumé

Early-onset cerebellar ataxia has a broad range of challenging differential diagnoses. Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. It is due to mutation in

Identifiants

DOI: 10.1136/bcr-2023-256994 PMID: 37977846 PMC: PMC10660149
pubmed: 37977846
pii: 16/11/e256994
doi: 10.1136/bcr-2023-256994
pmc: PMC10660149
pii:
doi:

Substances chimiques

Ubiquitin-Protein Ligases EC 2.3.2.27
RNF216 protein, human EC 2.3.2.27
OTUD4 protein, human EC 3.4.19.12
Ubiquitin-Specific Proteases EC 3.4.19.12

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Arjun Bal Kallupurakkal (A)

Neurology, King George Medical University, Lucknow, Uttar Pradesh, India.

Rajesh Verma (R)

Neurology, King George Medical University, Lucknow, Uttar Pradesh, India drrajeshverma32@yahoo.com.

Rajarshi Chakraborty (R)

Neurology, King George Medical University, Lucknow, Uttar Pradesh, India.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel mutation in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A novel mutation in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Ataxie cérébelleuse › A novel mutation in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Ubiquitin-protein ligase complexes › Ubiquitin-protein ligases › A novel mutation in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › A novel mutation in
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Hypogonadisme › A novel mutation in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel mutation in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › A novel mutation in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Peptide hydrolases › Endopeptidases › Ubiquitin-specific proteases › A novel mutation in