OBJECTIVE: To investigate the clinical, genetic, and neuroradiologic presentations of idiopathic basal ganglia calcification (IBGC) in a nationwide study in Japan. METHODS: We documented clinical and neuroimaging data of a total of 69 subjects including 23 subjects from 10 families and 46 subjects in sporadic cases of IBGC in Japan. Mutational analysis of SLC20A2 was performed. RESULTS: Six new mutations in SLC20A2 were found in patients with IBGC: 4 missense mutations, 1 nonsense mutation, and 1 frameshift mutation. Four of them were familial cases and 2 were sporadic cases in our survey. The frequency of families with mutations in SLC20A2 in Japan was 50%, which was as high as in a previous report on other regions. The clinical features varied widely among the patients with SLC20A2 mutations. However, 2 distinct families have the same mutation of S637R in SLC20A2 and they have similar characteristics in the clinical course, symptoms, neurologic findings, and neuroimaging. In our study, all the patients with SLC20A2 mutations showed calcification. In familial cases, there were symptomatic and asymptomatic patients in the same family. CONCLUSION: SLC20A2 mutations are a major cause of familial IBGC in Japan. The members in the families with the same mutation had similar patterns of calcification in the brain and the affected members showed similar clinical manifestations.
OBJECTIVE: To investigate the clinical, genetic, and neuroradiologic presentations of idiopathic basal ganglia calcification (IBGC) in a nationwide study in Japan. METHODS: We documented clinical and neuroimaging data of a total of 69 subjects including 23 subjects from 10 families and 46 subjects in sporadic cases of IBGC in Japan. Mutational analysis of SLC20A2 was performed. RESULTS: Six new mutations in SLC20A2 were found in patients with IBGC: 4 missense mutations, 1 nonsense mutation, and 1 frameshift mutation. Four of them were familial cases and 2 were sporadic cases in our survey. The frequency of families with mutations in SLC20A2 in Japan was 50%, which was as high as in a previous report on other regions. The clinical features varied widely among the patients with SLC20A2 mutations. However, 2 distinct families have the same mutation of S637R in SLC20A2 and they have similar characteristics in the clinical course, symptoms, neurologic findings, and neuroimaging. In our study, all the patients with SLC20A2 mutations showed calcification. In familial cases, there were symptomatic and asymptomatic patients in the same family. CONCLUSION:SLC20A2 mutations are a major cause of familial IBGC in Japan. The members in the families with the same mutation had similar patterns of calcification in the brain and the affected members showed similar clinical manifestations.
Authors: Eliana Marisa Ramos; Miryam Carecchio; Roberta Lemos; Joana Ferreira; Andrea Legati; Renee Louise Sears; Sandy Chan Hsu; Celeste Panteghini; Luca Magistrelli; Ettore Salsano; Silvia Esposito; Franco Taroni; Anne-Claire Richard; Christine Tranchant; Mathieu Anheim; Xavier Ayrignac; Cyril Goizet; Marie Vidailhet; David Maltete; David Wallon; Thierry Frebourg; Lylyan Pimentel; Daniel H Geschwind; Olivier Vanakker; Douglas Galasko; Brent L Fogel; A Micheil Innes; Alison Ross; William B Dobyns; Diana Alcantara; Mark O'Driscoll; Didier Hannequin; Dominique Campion; João R Oliveira; Barbara Garavaglia; Giovanni Coppola; Gaël Nicolas Journal: Eur J Hum Genet Date: 2018-06-28 Impact factor: 4.246
Authors: Monica Sanchez-Contreras; Matthew C Baker; NiCole A Finch; Alexandra Nicholson; Aleksandra Wojtas; Zbigniew K Wszolek; Owen A Ross; Dennis W Dickson; Rosa Rademakers Journal: Hum Mutat Date: 2014-06-03 Impact factor: 4.878
Authors: A Arteche-López; M I Álvarez-Mora; M T Sánchez Calvin; J M Lezana Rosales; C Palma Milla; M J Gómez Rodríguez; I Gomez Manjón; A Blázquez; A Juarez Rufián; P Ramos Gómez; O Sierra Tomillo; I Hidalgo Mayoral; R Pérez de la Fuente; I J Posada Rodríguez; L I González Granado; Miguel A Martin; J F Quesada-Espinosa; M Moreno-García Journal: Eur J Hum Genet Date: 2021-07-15 Impact factor: 5.351
Authors: Mary Catherine Wallingford; Jia Jun Chia; Elizabeth M Leaf; Suhaib Borgeia; Nicholas W Chavkin; Chenphop Sawangmake; Ken Marro; Timothy C Cox; Mei Y Speer; Cecilia M Giachelli Journal: Brain Pathol Date: 2016-05-06 Impact factor: 7.611