SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
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SCA28 : Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. / Svenstrup, Kirsten; Nielsen, Troels Tolstrup; Aidt, Frederik; Rostgaard, Nina; Duno, Morten; Wibrand, Flemming; Vinther-Jensen, Tua; Law, Ian; Vissing, John; Roos, Peter; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik.
I: The Cerebellum, Bind 16, Nr. 1, 02.2017, s. 62-67.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - SCA28
T2 - Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
AU - Svenstrup, Kirsten
AU - Nielsen, Troels Tolstrup
AU - Aidt, Frederik
AU - Rostgaard, Nina
AU - Duno, Morten
AU - Wibrand, Flemming
AU - Vinther-Jensen, Tua
AU - Law, Ian
AU - Vissing, John
AU - Roos, Peter
AU - Hjermind, Lena Elisabeth
AU - Nielsen, Jørgen Erik
PY - 2017/2
Y1 - 2017/2
N2 - 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.
AB - 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.
U2 - 10.1007/s12311-016-0765-1
DO - 10.1007/s12311-016-0765-1
M3 - Journal article
C2 - 26868664
VL - 16
SP - 62
EP - 67
JO - Cerebellum (London, England)
JF - Cerebellum (London, England)
SN - 1473-4222
IS - 1
ER -
ID: 166271277