Abstract:BACKGROUND
Adult neuronal ceroid lipofuscinosis (ANCL) can be caused by compound heterozygous recessive mutations in
CLN6
. The main clinical features of the disease are neurodegeneration, progressive motor dysfunction, seizures, cognitive decline, ataxia, vision loss and premature death.
CASE SUMMARY
A 37-year-old female presented to our clinic with a 3-year history of limb weakness and gradually experiencing unstable walking. The patient was… Show more
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