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

Kirsten Svenstrup; Troels Tolstrup Nielsen; Frederik Aidt; Nina Rostgaard; Morten Duno; Flemming Wibrand; Tua Vinther-Jensen; Ian Law; John Vissing; Peter Roos; Lena Elisabeth Hjermind; Jørgen Erik Nielsen

doi:10.1007/s12311-016-0765-1

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

Kirsten Svenstrup, Troels Tolstrup Nielsen, Frederik Aidt, Nina Rostgaard, Morten Duno, Flemming Wibrand, Tua Vinther-Jensen, Ian Law, John Vissing, Peter Roos, Lena Elisabeth Hjermind, Jørgen Erik Nielsen

10 Citations (Scopus)

Abstract

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.

Original language	English
Journal	The Cerebellum
Volume	16
Issue number	1
Pages (from-to)	62-67
Number of pages	6
ISSN	1473-4222
DOIs	https://doi.org/10.1007/s12311-016-0765-1
Publication status	Published - 1 Feb 2017

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Svenstrup, K., Nielsen, T. T., Aidt, F., Rostgaard, N., Duno, M., Wibrand, F., Vinther-Jensen, T., Law, I., Vissing, J., Roos, P., Hjermind, L. E., & Nielsen, J. E. (2017). SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. The Cerebellum, 16(1), 62-67. https://doi.org/10.1007/s12311-016-0765-1

Svenstrup, K, Nielsen, TT, Aidt, F, Rostgaard, N, Duno, M, Wibrand, F, Vinther-Jensen, T, Law, I , Vissing, J, Roos, P, Hjermind, LE & Nielsen, JE 2017, 'SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy', The Cerebellum, vol. 16, no. 1, pp. 62-67. https://doi.org/10.1007/s12311-016-0765-1

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

abstract = "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.",

author = "Kirsten Svenstrup and Nielsen, {Troels Tolstrup} and Frederik Aidt and Nina Rostgaard and Morten Duno and Flemming Wibrand and Tua Vinther-Jensen and Ian Law and John Vissing and Peter Roos and Hjermind, {Lena Elisabeth} and Nielsen, {J{\o}rgen Erik}",

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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

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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.

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DO - 10.1007/s12311-016-0765-1

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C2 - 26868664

SN - 1473-4222

VL - 16

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EP - 67

JO - The Cerebellum

JF - The Cerebellum

IS - 1

ER -

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

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