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Massive SCA7 expansion detected in a 7‐month‐old male with hypotonia, cardiomegaly, and renal compromise
Author(s) -
Whitney Andrea,
Lim Ming,
Kanabar Dipak,
Lin JeanPierre
Publication year - 2007
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2007.00140.x
Subject(s) - spinocerebellar ataxia , trinucleotide repeat expansion , hypotonia , anticipation (artificial intelligence) , medicine , pediatrics , disease , genetics , biology , allele , artificial intelligence , computer science , gene
Infantile spinocerebellar ataxia type 7 ( SCA7 ) is phenotypically different from the child‐onset and adult‐onset cases, presenting as a multisystem disorder associated with pathologically large CAG trinucleotide repeat sequences. We describe a case study of a male who presented at 5 months of age with marked motor delay, failure to thrive, and a patent ductus arteriosus. He later developed renal failure of uncertain aetiology. The infant became progressively hypotonic, and cardiac and renal function deteriorated further; he died at the age of 11 months of multisystem failure. Family history revealed a diagnosis of SCA7 in the infant's father, paternal grandfather, and aunt. DNA analysis confirmed an expanded trinucleotide repeat in the SCA7 locus of about 240 repeats, suggesting a diagnosis of infantile SCA7. Striking anticipation is seen in SCA7 , particularly with paternal transmission. The underlying pathophysiological processes seem to involve alteration in transcriptional regulation and a selective neuronal vulnerability to the widely distributed abnormal protein product. This case report reviews the current literature relating to infantile SCA7 and raises awareness of this rare but important phenotype.