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Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

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Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. / Kloth-Stachnau, Katja; Cozma, Claudia; Bester, Maxim; Gerloff, Christian; Biskup, Saskia; Zittel, Simone.

in: EUR J MED GENET, Jahrgang 63, Nr. 9, 09.2020, S. 103992.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kloth-Stachnau, K, Cozma, C, Bester, M, Gerloff, C, Biskup, S & Zittel, S 2020, 'Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46', EUR J MED GENET, Jg. 63, Nr. 9, S. 103992. https://doi.org/10.1016/j.ejmg.2020.103992

APA

Kloth-Stachnau, K., Cozma, C., Bester, M., Gerloff, C., Biskup, S., & Zittel, S. (2020). Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. EUR J MED GENET, 63(9), 103992. https://doi.org/10.1016/j.ejmg.2020.103992

Vancouver

Kloth-Stachnau K, Cozma C, Bester M, Gerloff C, Biskup S, Zittel S. Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. EUR J MED GENET. 2020 Sep;63(9):103992. https://doi.org/10.1016/j.ejmg.2020.103992

Bibtex

@article{7a718e8fc7924fbca6c9e52a6f1cdebc,
title = "Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46",
abstract = "GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive decline. Several neurological and non-neurological symptoms are associated with GBA2 mutations. An initial presentation with dystonia has not been reported so far. We report clinical, genetic and brain imaging findings in two siblings with hereditary spastic paraparesis. One sister presented with juvenile-onset leg spasticity and progressed to spastic tetraparesis, cervical and jaw opening dystonia, pseudobulbar symptoms and dementia. The other sister initially developed cervical dystonia in adulthood followed by gait spasticity and cognitive decline in the disease course. Molecular genetic testing revealed novel compound heterozygous variants in GBA2 in both sisters. The initial presentation with cervical dystonia and the differing clinical disease progression expand the clinical phenotype of GBA2 associated SPG46.",
author = "Katja Kloth-Stachnau and Claudia Cozma and Maxim Bester and Christian Gerloff and Saskia Biskup and Simone Zittel",
note = "Copyright {\textcopyright} 2020 Elsevier Masson SAS. All rights reserved.",
year = "2020",
month = sep,
doi = "10.1016/j.ejmg.2020.103992",
language = "English",
volume = "63",
pages = "103992",
journal = "EUR J MED GENET",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "9",

}

RIS

TY - JOUR

T1 - Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

AU - Kloth-Stachnau, Katja

AU - Cozma, Claudia

AU - Bester, Maxim

AU - Gerloff, Christian

AU - Biskup, Saskia

AU - Zittel, Simone

N1 - Copyright © 2020 Elsevier Masson SAS. All rights reserved.

PY - 2020/9

Y1 - 2020/9

N2 - GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive decline. Several neurological and non-neurological symptoms are associated with GBA2 mutations. An initial presentation with dystonia has not been reported so far. We report clinical, genetic and brain imaging findings in two siblings with hereditary spastic paraparesis. One sister presented with juvenile-onset leg spasticity and progressed to spastic tetraparesis, cervical and jaw opening dystonia, pseudobulbar symptoms and dementia. The other sister initially developed cervical dystonia in adulthood followed by gait spasticity and cognitive decline in the disease course. Molecular genetic testing revealed novel compound heterozygous variants in GBA2 in both sisters. The initial presentation with cervical dystonia and the differing clinical disease progression expand the clinical phenotype of GBA2 associated SPG46.

AB - GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive decline. Several neurological and non-neurological symptoms are associated with GBA2 mutations. An initial presentation with dystonia has not been reported so far. We report clinical, genetic and brain imaging findings in two siblings with hereditary spastic paraparesis. One sister presented with juvenile-onset leg spasticity and progressed to spastic tetraparesis, cervical and jaw opening dystonia, pseudobulbar symptoms and dementia. The other sister initially developed cervical dystonia in adulthood followed by gait spasticity and cognitive decline in the disease course. Molecular genetic testing revealed novel compound heterozygous variants in GBA2 in both sisters. The initial presentation with cervical dystonia and the differing clinical disease progression expand the clinical phenotype of GBA2 associated SPG46.

U2 - 10.1016/j.ejmg.2020.103992

DO - 10.1016/j.ejmg.2020.103992

M3 - SCORING: Journal article

C2 - 32590105

VL - 63

SP - 103992

JO - EUR J MED GENET

JF - EUR J MED GENET

SN - 1769-7212

IS - 9

ER -