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• Age of onset in the 30- to 70-year age range
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Inheritance
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• Apparent autosomal dominant pattern of inheritance of dementia or ALS or botha
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Clinical phenotype
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• Presence of the phenotype of bvFTD ± parkinsonism ± ALS in the patient and his or her relativesa
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• 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
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Cognitive/Neuropsychological features
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• Presence of executive dysfunction and word retrieval deficitsa
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• The presence of memory impairment or visuospatial impairment or both should not dissuade the suspicion of the mutation if many other clues are present.
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• 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.
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Behavioral features
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• 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
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• Presence of psychosis and other dramatic/bizarre behavior changes in the patient ± his or her relatives
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Neuroimaging features
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• Presence of symmetric bilateral frontal (often mesial more so than dorsolateral) ± temporal ± parietal atrophy or hypometabolisma
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• 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.
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Neuropathologic features
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• Presence of TDP-43-, ubiquitin-, ubiquilin-, and p62-positive inclusions in the cerebellum in the patient or any of his or her relativesa
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