Hyperkinesia and early-onset dementia in a female with co-occurring PSEN1 and HTT mutations: A case report
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A middle-aged female with family history of early-onset dementia presented with progressive amnesia, behavioral dysregulation, and myoclonus. Workup revealed pathogenic PSEN1 variant and intermediate HTT allele (30 CAG repeats). This case illustrates that moto... ...
