Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in

Journal

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

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 07 06 2023
accepted: 04 08 2023
medline: 30 11 2023
pubmed: 30 11 2023
entrez: 30 11 2023
Statut: epublish

Résumé

Biallelic variants in Clinical evaluation, neuroimaging studies, a kidney biopsy, and whole genome sequencing (WGS) were applied. Since the phenotype was compatible with a mitochondrial disease, a muscle biopsy with morphological and mitochondrial biochemical investigations was performed. Axial ataxia, cerebellar atrophy, hearing loss, myopathy, ptosis, supranuclear palsy, and kidney failure because of nephronophthisis were the prominent features in this case. WGS revealed the novel biallelic variant c.766C>T (p.Gln256*) in This is the first report of a slowly progressive cerebellar ataxia associated with a novel biallelic variant in

Identifiants

DOI: 10.1212/NXG.0000000000200100 PMID: 38035175 PMC: PMC10684053
pubmed: 38035175
doi: 10.1212/NXG.0000000000200100
pii: NXG-2023-000165
pmc: PMC10684053
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200100

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.

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Auteurs

Ilan Ben-Shabat (I)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0000-0003-2211-7528

Malin Kvarnung (M)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0000-0003-0193-0165

Wolfgang Sperker (W)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0000-0002-5351-9418

Helene Bruhn (H)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.

Anna Wredenberg (A)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0000-0002-2500-6121

Rolf Wibom (R)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0000-0001-6721-4642

Inger Nennesmo (I)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0009-0000-0871-1147

Martin Engvall (M)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.

Martin Paucar (M)

From the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
ORCID: 0000-0003-3735-1480

Classifications MeSH