This website provides information on patients with mutations in the CACNA1A gene, including clinical data, molecular data, management and research options.
Mutations in CACNA1A can lead to a spectrum of neuronal diseases:
Familial/Sporadic hemiplegic migraine type 1 (FHM1/SHM1, OMIM #141500) is a severe subtype of migraine with aura. It is characterised by migrainous headaches accompanied by aura symptoms, which include transient motor weakness. Hemiplegic migraine type 1 is subdivided in familial hemiplegic migraine type 1 (FHM1) and sporadic hemiplegic migraine type 1 (SHM1). Distinction can be made on the basis of having respectively a positive or negative family history for hemiplegic migraine.
Episodic ataxia type 2 (EA2, OMIM #108500) is a characterized by paroxysmal attacks of cerebellar dysfunction. Interictally patients can suffer from gaze-evoked nystagmus and mild permanent cerebellar ataxia.
Spinocerebellar ataxia type 6 (SCA6, OMIM #183086) is characterized by late-onset slowly progressive ataxia and cerebellar atrophy. The mean age of onset is between the 4th and 5th decade.
Early infantile epileptic encephalopathy type 42 (EIEE42, OMIM# 617106) is a form of epileptic encephalopathy and is characterized by multiple seizure types, epileptiform activity, severe developmental delay and often has a poor prognosis.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CACNA1A gene.
Arn M.J.M. van den Maagdenberg, PhD, Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands, A.M.J.M.van_den_Maagdenberg@lumc.nl
Mariëtte J.V. Hoffer, PhD, Departments of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands, M.J.V.Hoffer@lumc.nl
Aster V.E. Harder, MD, Departments of Neurology, Leiden University Medical Centre, Leiden, The Netherlands, A.V.E.Harder@lumc.nl