CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

Vera Tadic; Christine Klein; Frauke Hinrichs; Alexander Münchau; Katja Lohmann; Norbert Brüggemann

doi:10.1007/s00415-017-8464-5

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

Vera Tadic, Christine Klein, Frauke Hinrichs, Alexander Münchau, Katja Lohmann, Norbert Brüggemann^*

^*Corresponding author for this work

20 Citations (Scopus)

Abstract

Dear Sirs,

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterized by pyramidal tract affection and variable other neurological manifestations [2]. Mutations in the CAPN1 gene have recently been identified as causative for SPG76 [4]. Homozygous and compound-heterozygous CAPN1 mutations were also found in pedigrees with an overlapping ataxia-spasticity syndrome with or without additional mild cognitive decline and mild axonal peripheral involvement [6]. In addition, a missense CAPN1 mutation was previously associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed [3].

Our 39-year-old female index patient noticed first symptoms of a slowly progressive gait disorder at the age of 29 years (Fig. 1a). Neurological examination revealed mild dysarthria, slightly slowed saccades, spastic tetraparesis predominantly affecting the legs. Muscle tone was severely increased causing action-induced pes equinovarus...

Original language	English
Journal	Journal of Neurology
Volume	264
Issue number	5
Pages (from-to)	1008-1010
Number of pages	3
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-017-8464-5
Publication status	Published - 01.05.2017

Funding

The study has been approved by the ethics committee of the University of L?beck. CK is the recipient of a career development award from the Hermann and Lilly Schilling Foundation. This study was supported by the Foundation of the University Medical Center Schleswig?Holstein "Gutes Tun!" (A.M.), and the Possehl-Stiftung (L?beck, A.M.) as well as the German Research Foundation (DFG, LO1555/8-1). (1) Research project: A. Conception (CK, AM, KL, NB), B. Organization (VT, CK, AM, NB), C. Execution (VT, FH, KL, NB). (2) Manuscript: A Writing of the first draft (NB), B. Review and Critique (VT, CK, FH, AM, KL).

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00415-017-8464-5

Cite this

@article{821587d0a4984c9c907445c36d4b3122,

title = "CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia",

abstract = "Dear Sirs, Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterized by pyramidal tract affection and variable other neurological manifestations [2]. Mutations in the CAPN1 gene have recently been identified as causative for SPG76 [4]. Homozygous and compound-heterozygous CAPN1 mutations were also found in pedigrees with an overlapping ataxia-spasticity syndrome with or without additional mild cognitive decline and mild axonal peripheral involvement [6]. In addition, a missense CAPN1 mutation was previously associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed [3]. Our 39-year-old female index patient noticed first symptoms of a slowly progressive gait disorder at the age of 29 years (Fig. 1a). Neurological examination revealed mild dysarthria, slightly slowed saccades, spastic tetraparesis predominantly affecting the legs. Muscle tone was severely increased causing action-induced pes equinovarus...",

author = "Vera Tadic and Christine Klein and Frauke Hinrichs and Alexander M{\"u}nchau and Katja Lohmann and Norbert Br{\"u}ggemann",

year = "2017",

month = may,

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doi = "10.1007/s00415-017-8464-5",

language = "English",

volume = "264",

pages = "1008--1010",

journal = "Journal of Neurology",

issn = "0340-5354",

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number = "5",

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TY - JOUR

T1 - CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

AU - Tadic, Vera

AU - Klein, Christine

AU - Hinrichs, Frauke

AU - Münchau, Alexander

AU - Lohmann, Katja

AU - Brüggemann, Norbert

PY - 2017/5/1

Y1 - 2017/5/1

N2 - Dear Sirs, Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterized by pyramidal tract affection and variable other neurological manifestations [2]. Mutations in the CAPN1 gene have recently been identified as causative for SPG76 [4]. Homozygous and compound-heterozygous CAPN1 mutations were also found in pedigrees with an overlapping ataxia-spasticity syndrome with or without additional mild cognitive decline and mild axonal peripheral involvement [6]. In addition, a missense CAPN1 mutation was previously associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed [3]. Our 39-year-old female index patient noticed first symptoms of a slowly progressive gait disorder at the age of 29 years (Fig. 1a). Neurological examination revealed mild dysarthria, slightly slowed saccades, spastic tetraparesis predominantly affecting the legs. Muscle tone was severely increased causing action-induced pes equinovarus...

AB - Dear Sirs, Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterized by pyramidal tract affection and variable other neurological manifestations [2]. Mutations in the CAPN1 gene have recently been identified as causative for SPG76 [4]. Homozygous and compound-heterozygous CAPN1 mutations were also found in pedigrees with an overlapping ataxia-spasticity syndrome with or without additional mild cognitive decline and mild axonal peripheral involvement [6]. In addition, a missense CAPN1 mutation was previously associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed [3]. Our 39-year-old female index patient noticed first symptoms of a slowly progressive gait disorder at the age of 29 years (Fig. 1a). Neurological examination revealed mild dysarthria, slightly slowed saccades, spastic tetraparesis predominantly affecting the legs. Muscle tone was severely increased causing action-induced pes equinovarus...

UR - https://www.scopus.com/pages/publications/85018771733

U2 - 10.1007/s00415-017-8464-5

DO - 10.1007/s00415-017-8464-5

M3 - Letters

AN - SCOPUS:85018771733

SN - 0340-5354

VL - 264

SP - 1008

EP - 1010

JO - Journal of Neurology

JF - Journal of Neurology

IS - 5

ER -

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

Abstract

Funding

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UN SDGs

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Identification of novel dystonia genes in consanguineous families

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CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

Abstract

Funding

Research Areas and Centers

UN SDGs

Access to Document

Other files and links

Fingerprint

Projects

Identification of novel dystonia genes in consanguineous families

Cite this