Definitive diagnosis of<unk>  requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete.
Frontotemporal dementia and parkinsonism linked to chromosome 17
Familial encephalopathy with neuroserpin inclusion bodies
Myopathy, X-linked, with excessive autophagy
Limbic-predominant age-related TDP-43 encephalopathy
Variably protease-sensitive prionopathy
Huntington's disease-like syndrome
Spinal muscular atrophy with progressive myoclonic epilepsy
SYNGAP1-related intellectual disability