Natural history of non-polyglutamine CACNA1A disease in Austria

• Published in: Journal of neurology Vol. 271; no. 10; pp. 6618 - 6627
• Main Authors: Indelicato, Elisabetta, Nachbauer, Wolfgang, Amprosi, Matthias S., Maier, Sarah, Unterberger, Iris, Delazer, Margarete, Kaltseis, Katharina, Kiechl, Stefan, Broessner, Gregor, Baumann, Matthias, Boesch, Sylvia
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2024; Springer Nature B.V
• Subjects: Acetazolamide; Adolescent; Adult; Aged; Austria - epidemiology; Calcitonin gene-related peptide; Calcium Channels - genetics; Cerebellum; Child; Child development; Child, Preschool; Children; Developmental Disabilities - drug therapy; Disease prevention; Epilepsy; Female; Follow-Up Studies; Headache; Humans; Male; Medical treatment; Medicine; Medicine & Public Health; Middle Aged; Migraine; Monoclonal antibodies; Movement disorders; Neurological diseases; Neurology; Neuroradiology; Neurosciences; Original Communication; Paralysis; Patients; Polyglutamine diseases; Prophylaxis; Seizures; Topiramate; Trinucleotide repeat diseases; Young Adult; Austria; Episodic ataxia; Anti-CGRP antibody; Outcome measurements; Hemiplegic migraine; Natural history; CACNA1A

Background and objectives Non-polyglutamine CACNA1A variants underlie an extremely variable phenotypic spectrum encompassing developmental delay, hemiplegic migraine, epilepsy, psychiatric symptoms, episodic and chronic cerebellar signs. We provide our experience with the long-term follow-up of CACN...