Unilateral Multiple Cranial Nerve Palsies Mimicking Garcin Syndrome as an Atypical Symptom of Brainstem Encephalitis :: A Case Report Wami Marui 1,2 , Eizo Iseki 1 , Naoya Sugiyama 1 , Takehiko Matsumura 1 , Kyoko Suzuki 1 , Toshinari Odawara 1 , Hiroaki Hino 1 , Kenji Kosaka 1 1Department of Psychiatry, Yokohama City University School of Medicine 2Division of Nursing, Jikei Medical University Hospital Keyword: familial Alzheimer's disease , presenilin 1 , age of onset , apolipoprotein E , gene dose effect pp.349-353
Published Date 2003/4/1
DOI https://doi.org/10.11477/mf.1406100473
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We previously reported a Japanese family with early-onset familial Alzheimer's disease associated with G209R presenilin 1(PS 1) mutation. There have been six patients across three generations in this family. In the present report, we described the clinical course, findings with neuroimaging and results of genetic examination of PS 1 and apolipoprotein E(ApoE) in three of six patients(II-1, III-1 and 2). The clinical course was common to all three patients. Memory disturbance, disorientation, amnestic aphasia, personality changes and perseveration appeared at early stages, whereas Gerstmann's syndrome, myoclonus and general convulsion were recognized at advanced stages. CT disclosed mild brain atrophy in the temporal lobes at early stages and diffuse brain atrophy predominantly in the fronto-temporal lobes at advanced stages. SPECT exhibited hypoperfusion in the fronto-temporal areas at early stages and hypoperfusion in the fronto-temporal and parieto-occipital areas at advanced stages. The age of onset in six patients demonstrated two clusters at age 53-55(I-1, II-1, 2 and 5) and age 46-48(III-1 and 2). PS 1 genotyping demonstrated that the heterozygous exonic missense mutation G209R was confirmed in all three patients. Regarding the ApoE genotyping, II-1(mother) was ε3/ε3, whereas III-1 and 2(children) were ε3/ε4. These findings suggest the possibility that there might be a gene dose effect, since the age of onset ranged from 5 to 7 years younger in patients who received ε4 alleles from the father.

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