Results 71 to 80 of about 25,975 (129)

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A

Frontiers in Neurology
Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phenotype including
Dilbar Mammadova, Cornelia Kraus, Thomas Leis, Bernt Popp, Bernt Popp, Christiane Zweier, Christiane Zweier, Andre Reis, Andre Reis, Regina Trollmann, Regina Trollmann   +10 more
doaj   +1 more source

Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6. [PDF]

Neurol Genet, 2020
Odo T, Okamoto T, Sato N, Takahashi Y.
europepmc   +1 more source

Cerebral Venous Thrombosis: An Unexpected Complication with Cerebrospinal Fluid Leaks after a Fall in a Patient with Spinocerebellar Ataxia Type 6. [PDF]

Intern Med, 2020
Yamamoto Y, Yamamoto N, Fujita K, Fukumoto T, Murakami N, Mure H, Kanematsu Y, Takagi Y, Izumi Y.   +8 more
europepmc   +1 more source

Developing a pathway to clinical trials for -related epilepsies: A patient organization perspective

Therapeutic Advances in Rare Disease
CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic ...
Pangkong M. Fox, Sunitha Malepati, Lisa Manaster, Elsa Rossignol, Jeffrey L. Noebels   +4 more
doaj   +1 more source

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

Cell Reports, 2017
Yoshihito Ishida, Hideshi Kawakami, Hiroyuki Kitajima, Ayaka Nishiyama, Yoshiki Sasai, Haruhisa Inoue, Keiko Muguruma   +6 more
doaj   +1 more source

Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6. [PDF]

Cerebellum, 2018
Pastor PDH, Du X, Fazal S, Davies AN, Gomez CM.   +4 more
europepmc   +1 more source

Cerebellar Cognitive Affective Syndrome in Spinocerebellar Ataxia Type 6. [PDF]

Cerebellum
Machado FM, Massuyama BK, Gomes JS, França MC, Barsottini OGP, Pedroso JL.   +5 more
europepmc   +1 more source

Transcranial magnetic stimulation for diplopia in a patient with spinocerebellar ataxia type 6: a case report. [PDF]

Cerebellum Ataxias, 2018
Kawamura K, Etoh S, Shimodozono M.
europepmc   +1 more source

Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6. [PDF]

Neurol Genet
Hatano Y, Ishihara T, Hirokawa S, Date H, Takahashi Y, Mizusawa H, Onodera O.   +6 more
europepmc   +1 more source

Quantitative Oculomotor and Vestibular Profile in Spinocerebellar Ataxia Type 6 - Systematic Review and Meta-Analysis. [PDF]

Cerebellum
Tarnutzer AA, Garces P, Antoniades CA.
europepmc   +1 more source