ArticleNeurology. Genetics2020
Clinical and pathologic phenotype of a large family with heterozygous
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Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 28 citations in OpenAlex.
- Domain-dependent uncoupling of the co-chaperone and E3 ubiquitin ligase CHIP underlies heterogeneity in spinocerebellar ataxia 48.The Journal of biological chemistry · 2026Article
- Movement Disorders in Hereditary Cerebellar Ataxia.Movement disorders clinical practice · 2025Article
- Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree.Orphanet journal of rare diseases · 2024Article
- Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.Cerebellum (London, England) · 2024Article
- Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.Journal of neurology · 2024Article
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- Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.Acta neuropathologica communications · 2022Article
- The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.The Journal of biological chemistry · 2022Article
- A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation inFrontiers in molecular neuroscience · 2022Article
- A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.Journal of neurology · 2021Article
- Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).Journal of biomedical science · 2021Article
- Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.Journal of neurology · 2021Article
- C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.Current neuropharmacology · 2021Review
- CHIP as a therapeutic target for neurological diseases.Cell death & disease · 2020Review
- Spinocerebellar ataxia type 48: last but not least.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- The "crab sign": an imaging feature of spinocerebellar ataxia type 48.Neuroradiology · 2020Observational
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Authors and funding
10 authors at 1 institution in 3 countries.
Merel O MolDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.ORCID 0000-0003-2533-2530
Jeroen G J van RooijDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Esther BrusseDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Annemieke J M H VerkerkDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Shamiram MelhemDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Wilfred F A den DunnenDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Patrizia RizzuDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Chiara CupidiDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
John C van SwietenDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Laura Donker KaatDepartment of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi "Bonino Pulejo" (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
University Medical Center Groningen · NL
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the clinical and pathologic features of a novel pedigree with heterozygous
methodsWe report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and genetic analyses (whole-exome sequencing, whole-genome sequencing, and linkage analysis) were performed on multiple family members.
resultsPatients presented with adult-onset gait disturbance (ataxia or parkinsonism), combined with prominent cognitive decline and behavioral changes. Whole-exome sequencing identified a novel heterozygous frameshift variant c.731_732delGC (p.C244Yfs*24) in
conclusionsThis study confirms previous findings of heterozygous
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