Transthyretin-related familial amyloidotic polyneuropathy-Progress in Kumamoto, Japan (1967-2010)-.

The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related FAP) for 42 years (from 1967 to 2009). Andrade (1952) first described a large group of patients with FAP in Portugal and Araki et al. (1967) in second discovered similar FAP patients in Arao, Kumamoto, Japan. Owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published. The authors' group has made pioneer works for study of FAP in the world. The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected.

[Independent action of the Japanese Society of Neurology is a driving force behind the development of Japanese neurology].

The Japanese Society of Neurology was founded in 1960. The Department of Neurology was established at The Kyushu University Faculty of Medicine in 1963, and then The Japanese Neurology has advanced.

[Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI].

A 59-year-old woman with Gerstmann-Sträussler-Scheinker syndrome (GSS P102L) was reported. She slowly developed progressive gait disturbance and limb ataxia by the age of 58, subsequently followed by dementia and myoclonus. EEG showed periodic synchronous discharges, and MRI by diffusion weighted imaging revealed abnormal high signal intensity lesions in the bilateral cerebral cortex and basal ganglia. A prorin-for-leution substitution at codon 102 of the prion protein gene was demonstrated; and thus, she was diagnosed as GSS (P102L). This is a case of GSS presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI; it suggests that MRI findings disease stages in GSS.

[Astasia in a patient with unilateral thalamic infarction: clinical and MRI study].

We report a 82-year-old woman who developed difficulty in standing and sitting in the morning. She had no other complaints and stayed in the bed. The next day, she was admitted to the hospital and neurological examination revealed that she was alert, with no other motor or sensory abnormalities. Finger to nose test, and knee to heel test were normal. No dysdiadochokinesia was seen. Astasia was the only observed abnormal finding. MRI showed a small infarction (14 x 8mm) in the posterolateral portion of the left thalamus (VPL-LP nucleus). During the following 15 days, her imbalance has gradually improved and then disappeared. We diagnosed the patient as astasia occurring from a small unilateral infarction in the thalamus. It is thought that thalamic astasia is caused by the disruption of afferent pathway from the vestibulocerebellum; however, this case is based on just clinical and MRI study, so physiological and pathological studies will be necessary in the future.

Transthyretin-related familial amyloidotic polyneuropathy.

Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a deletion in the transthyretin gene, have been published, and several different phenotypes of FAP have been documented, even for the same mutation in the transthyretin gene. We present herein the current clinicopathological, biochemical, molecular genetic, and epidemiological aspects of transthyretin-related FAP, and we introduce a new diagnostic procedure for the disease.