Journal

The Japanese journal of neuropsychology

[Vol.40 No.4 contents]
Japanese/English

Full Text of this Article
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ArticleTitle A case of two brothers with thinning of the corpus callosum and marked frontal lobe symptoms and parkinsonism at a young age
Language J
AuthorList Airi Nakayama1), Kayo Takeda2), Kazue Shigenobu3)4), Tetsuo Kashibayashi5), Kohji Mori2), Manabu Ikeda2)
Affiliation 1)Department of Clinical Psychology, Asakayama General Hospital
2)Department of Psychiatry, Osaka University Graduate School of Medicine
3)Department of Psychiatry, Asakayama General Hospital
4)Department of Behavioral Neurology and Neuropsychiatry, Osaka University United Graduate School of Child Development
5)Hyogo Prefectural Rehabilitation Hospital at Nishi-Harima
Publication Japanese Journal of Neuropsychology: 40 (4), 322-331, 2024
Received
Accepted
Abstract We present the case of two brothers in their 50s with early-onset parkinsonism, characterized by gait disturbance, bradykinesia, and pronounced frontal lobe symptoms. Head MRI showed atrophy mainly in the frontoparietal lobes and thinning of the corpus callosum. In addition, 123I-ioflpane SPECT performed in the younger brother demonstrated decreased uptake in the bilateral striatum. Neuropsychological testing revealed a marked decline in attention and working memory, aphasia, and relatively mild recent memory impairment. Suspecting familial neurodegenerative disease, we performed genetic testing on his younger brother's blood samples and found no apparent gene mutations in MAPT, GRN, C9orf72, TARDBP, FUS, TAF15, TARDBP, VCP, CHMP2B, TBK1, TREM2, or CSF1R. We suspect familial CBD and are currently searching for other gene mutations.
Keywords early-onset dementia, familial neurodegenerative disease, thinning of the corpus callosum, frontal lobe symptoms, parkinsonism

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