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SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Localization of CGRP receptor components, CGRP, and receptor binding sites in human and rhesus cerebellar cortex

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. TDP-43-specific Autoantibody Decline in Patients With Amyotrophic Lateral Sclerosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. PET imaging of meningioma with 18F-FLT: a predictor of tumour progression

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Effect of blood glucose and body weight on image quality in brain [18F]FDG PET imaging

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

The spinocerebellar ataxias (SCA) are a group of rare inherited neurodegenerative diseases characterized by slowly progressive cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria. The disorders are predominantly inherited in an autosomal dominant manner. Mutations in the gene AFG3L2 that encodes a subunit of the mitochondrial m-AAA protease have previously been shown to cause spinocerebellar ataxia type 28 (SCA28). Here, we present the clinical phenotypes of three patients from a family with autosomal dominant cerebellar ataxia and show by molecular genetics and in silico modelling that this is caused by a novel missense mutation in the AFG3L2 gene. Furthermore, we show, for the first time, fluorodeoxyglucose-positron emission tomography (FDG-PET) scans of the brain and selective type I fiber atrophy of skeletal muscle of SCA28 patients indicating non-nervous-system involvement in SCA28 as well.

OriginalsprogEngelsk
TidsskriftCerebellum (London, England)
Vol/bind16
Udgave nummer1
Sider (fra-til)62-67
DOI
StatusUdgivet - 2017

ID: 49236640