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 diagnosed with CLN6 type ANCL after the identification of mutations in the CLN6 gene. The patient was treated with antiepileptic drugs. The patient is under ongoing follow-up. Unfortunately, the patient's condition has deteriorated, and she is currently unable to care for herself.
Conclusion: There is presently no effective treatment for ANCL. However, early diagnosis and symptomatic treatment are possible.
Keywords: Ataxia; CLN6; Case report; Epilepsy; Genetic testing; Neuronal ceroid lipofuscinosis.
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