Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Feb 2024
Historique:
received: 05 09 2023
accepted: 01 11 2023
medline: 4 1 2024
pubmed: 4 1 2024
entrez: 3 1 2024
Statut: epublish

Résumé

To investigate the etiology of cerebellar ataxia in an adult male patient. We performed standard neurologic assessment and genome sequencing of a 62-year-old man with rapidly progressive balance and gait abnormalities. The propositus exhibited cognitive dysfunction, mild appendicular bradykinesia, prominent appendicular ataxia, dysarthria, and hypomimia with minimal dysautonomic symptoms. Nerve conduction studies showed mild peripheral sensory neuropathy and normal motor nerve conduction velocities. Brain imaging showed progressive cerebellar atrophy and gliosis of the olivopontocerebellar fibers, characterized by T2 hyperintensity within the pons. Genetic testing revealed a likely pathogenic germline variant in We describe progressive cerebellar ataxia in an individual with a deleterious variant in

Identifiants

DOI: 10.1212/NXG.0000000000200114 PMID: 38170145 PMC: PMC10759145
pubmed: 38170145
doi: 10.1212/NXG.0000000000200114
pii: NXG-2023-000264DN
pmc: PMC10759145
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200114

Informations de copyright

Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.

Auteurs

Adrienne Elbert (A)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Katherine Dixon (K)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Yaoqing Shen (Y)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Sara Hamilton (S)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Cornelius F Boerkoel (CF)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
ORCID: 0000-0003-3097-241X

Steven J Jones (SJ)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Anish K Kanungo (AK)

From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Classifications MeSH