Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

• Infantile SCA7 resembles disorders like the neuronal ceroid lipofuscinosis.
• Massive CAG repeat expansions of infantile SCA7 are usually paternally transmitted.
• Retinal degeneration may not be evident at presentation of infantile SCA7.
• Infantile SCA7 pathology is widespread, including organs outside the CNS.
• Proper techniques (TP-PCR) should be applied when large expanded CAGs are suspected.