Adult-onset ataxia or developmental disorder with seizures: Two sides of missense changes in CACNA1A

Alexander Balck; Henrike Hanssen; Yorck Hellenbroich; Katja Lohmann; Alexander Münchau

doi:10.1007/s00415-017-8494-z

Adult-onset ataxia or developmental disorder with seizures: Two sides of missense changes in CACNA1A

Alexander Balck, Henrike Hanssen, Yorck Hellenbroich, Katja Lohmann, Alexander Münchau^*

^*Corresponding author for this work

Abstract

Spinocerebellar ataxia type 6 (SCA6), familiar hemiplegic migraine (FHM), and episodic ataxia type 2 (EA2) are allelic disorders linked to CACNA1A mutations. CACNA1A encodes the alpha-1A subunit of neuronal voltage-dependent P/Q-type Ca2+ channels [1]. Some genotype-phenotype correlation has been observed with FHM usually caused by missense, EA2 by premature stop mutations, and SCA6 by CAG trinucleotide repeat expansions [2]. However, there is ample clinical overlap [3] and high intrafamilial phenotypic variability [4, 5]. Also, clinical manifestations beyond the “classical” phenotypes have recently been described including seizures and intellectual disability (ID) [6].

We report two patients with different missense mutations in CACNA1A, one presenting with an adult-onset SCA6-like phenotype, the other with infantile epilepsy, ID, ataxia, and myoclonus.

A 32-years-old male Portuguese patient (Patient 1) had a 3-year history of gradually developing diplopia, slurring speech...

Original language	English
Journal	Journal of Neurology
Volume	264
Issue number	7
Pages (from-to)	1520-1522
Number of pages	3
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-017-8494-z
Publication status	Published - 01.07.2017

Research Areas and Centers

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

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title = "Adult-onset ataxia or developmental disorder with seizures: Two sides of missense changes in CACNA1A",

abstract = "Spinocerebellar ataxia type 6 (SCA6), familiar hemiplegic migraine (FHM), and episodic ataxia type 2 (EA2) are allelic disorders linked to CACNA1A mutations. CACNA1A encodes the alpha-1A subunit of neuronal voltage-dependent P/Q-type Ca2+ channels [1]. Some genotype-phenotype correlation has been observed with FHM usually caused by missense, EA2 by premature stop mutations, and SCA6 by CAG trinucleotide repeat expansions [2]. However, there is ample clinical overlap [3] and high intrafamilial phenotypic variability [4, 5]. Also, clinical manifestations beyond the “classical” phenotypes have recently been described including seizures and intellectual disability (ID) [6].We report two patients with different missense mutations in CACNA1A, one presenting with an adult-onset SCA6-like phenotype, the other with infantile epilepsy, ID, ataxia, and myoclonus.A 32-years-old male Portuguese patient (Patient 1) had a 3-year history of gradually developing diplopia, slurring speech...",

author = "Alexander Balck and Henrike Hanssen and Yorck Hellenbroich and Katja Lohmann and Alexander M{\"u}nchau",

year = "2017",

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doi = "10.1007/s00415-017-8494-z",

language = "English",

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T1 - Adult-onset ataxia or developmental disorder with seizures: Two sides of missense changes in CACNA1A

AU - Balck, Alexander

AU - Hanssen, Henrike

AU - Hellenbroich, Yorck

AU - Lohmann, Katja

AU - Münchau, Alexander

PY - 2017/7/1

Y1 - 2017/7/1

N2 - Spinocerebellar ataxia type 6 (SCA6), familiar hemiplegic migraine (FHM), and episodic ataxia type 2 (EA2) are allelic disorders linked to CACNA1A mutations. CACNA1A encodes the alpha-1A subunit of neuronal voltage-dependent P/Q-type Ca2+ channels [1]. Some genotype-phenotype correlation has been observed with FHM usually caused by missense, EA2 by premature stop mutations, and SCA6 by CAG trinucleotide repeat expansions [2]. However, there is ample clinical overlap [3] and high intrafamilial phenotypic variability [4, 5]. Also, clinical manifestations beyond the “classical” phenotypes have recently been described including seizures and intellectual disability (ID) [6].We report two patients with different missense mutations in CACNA1A, one presenting with an adult-onset SCA6-like phenotype, the other with infantile epilepsy, ID, ataxia, and myoclonus.A 32-years-old male Portuguese patient (Patient 1) had a 3-year history of gradually developing diplopia, slurring speech...

AB - Spinocerebellar ataxia type 6 (SCA6), familiar hemiplegic migraine (FHM), and episodic ataxia type 2 (EA2) are allelic disorders linked to CACNA1A mutations. CACNA1A encodes the alpha-1A subunit of neuronal voltage-dependent P/Q-type Ca2+ channels [1]. Some genotype-phenotype correlation has been observed with FHM usually caused by missense, EA2 by premature stop mutations, and SCA6 by CAG trinucleotide repeat expansions [2]. However, there is ample clinical overlap [3] and high intrafamilial phenotypic variability [4, 5]. Also, clinical manifestations beyond the “classical” phenotypes have recently been described including seizures and intellectual disability (ID) [6].We report two patients with different missense mutations in CACNA1A, one presenting with an adult-onset SCA6-like phenotype, the other with infantile epilepsy, ID, ataxia, and myoclonus.A 32-years-old male Portuguese patient (Patient 1) had a 3-year history of gradually developing diplopia, slurring speech...

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M3 - Letters

AN - SCOPUS:85018243575

SN - 0340-5354

VL - 264

SP - 1520

EP - 1522

JO - Journal of Neurology

JF - Journal of Neurology

IS - 7

ER -

Adult-onset ataxia or developmental disorder with seizures: Two sides of missense changes in CACNA1A

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