TY - JOUR
T1 - Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation
AU - Pradotto, Luca
AU - Mencarelli, Monica
AU - Bigoni, Matteo
AU - Milesi, Alessandra
AU - Di Blasio, Anna
AU - Mauro, Alessandro
PY - 2016/12/15
Y1 - 2016/12/15
N2 - Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. In our family the phenotypes maintained separate and gender differences corresponding to different phenotypes were observed.
AB - Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. In our family the phenotypes maintained separate and gender differences corresponding to different phenotypes were observed.
KW - Acetazolamide
KW - CACNA1A
KW - Episodic ataxia
KW - Gender differences
KW - SCA6
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U2 - 10.1016/j.jns.2016.10.029
DO - 10.1016/j.jns.2016.10.029
M3 - Article
AN - SCOPUS:84992313140
VL - 371
SP - 81
EP - 84
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
ER -