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Juvenile/adult‐onset galactosialidosis with remarkable clinical variabilities in two Japanese siblings
Author(s) -
Tsukagoshi Setsuki,
Sugawara Takashi,
Fujisawa Yousuke,
Takayama Mayuko,
Furuta Natsumi,
Nagashima Kazuaki,
Ikeda Yoshio
Publication year - 2019
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12294
Subject(s) - medicine , myoclonus , ataxia , atrophy , pediatrics , neurological examination , cerebellar ataxia , progressive myoclonus epilepsy , pathology , psychiatry
Galactosialidosis is caused by mutations in the cathepsin A ( CTSA ) gene. We clinically and genetically examined two Japanese siblings with juvenile/adult‐onset galactosialidosis. Case 1‐1: A 39‐year‐old man was diagnosed as having mental retardation and epilepsy at 6 years. His visual acuity was impaired when he was 31 years, ophthalmological examination found cherry‐red spots in both eyes. Neurological examination revealed cerebellar ataxia, limb weakness, and myoclonus. Cerebral MRI showed diffuse cerebro‐cerebellar atrophy. Case 1‐2: A 36‐year‐old man at examination complained of impaired visual acuity when he was 29 years, cherry‐red spots were found in both eyes. Neurological examination revealed only occasional myoclonus. Genetic analysis confirmed a homozygous mutation ( IVS 7 DS , A‐G, +3) in the CTSA gene in both cases. This mutation is known to cause juvenile/adult‐onset galactosialidosis only found in Japanese. Remarkable clinical differences among sibling cases were rare and prompted to reassess our understanding of the pathogenesis of galactosialidosis.