Demographics |
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•      Age of onset in the 30- to 70-year age range |
Inheritance |
•      Apparent autosomal dominant pattern of inheritance of dementia or ALS or botha |
Clinical phenotype |
•      Presence of the phenotype of bvFTD ± parkinsonism ± ALS in the patient and his or her relativesa |
•      Absence of any of the focal/asymmetric focal cortical degenerative syndromes (for example, primary progressive aphasia and corticobasal syndrome) in the patient and his or her relativesa |
Cognitive/Neuropsychological features |
•      Presence of executive dysfunction and word retrieval deficitsa |
•      The presence of memory impairment or visuospatial impairment or both should not dissuade the suspicion of the mutation if many other clues are present. |
•      Normal or minimally abnormal performance on neuropsychological tests early in the course of behavioral changes should not dissuade the suspicion of the mutation if many other clues are present. |
Behavioral features |
•      Presence of the 'classic bvFTD features' in the patient, including behavioral disinhibition, early apathy or inertia, early loss of sympathy or empathy, and hyperorality and dietary changesa |
•      Presence of psychosis and other dramatic/bizarre behavior changes in the patient ± his or her relatives |
Neuroimaging features |
•      Presence of symmetric bilateral frontal (often mesial more so than dorsolateral) ± temporal ± parietal atrophy or hypometabolisma |
•      Normal or minimally abnormal neuroimaging findings early in the course of behavioral changes should not dissuade the suspicion of the mutation if many other clues are present. |
Neuropathologic features |
•      Presence of TDP-43-, ubiquitin-, ubiquilin-, and p62-positive inclusions in the cerebellum in the patient or any of his or her relativesa |