Masanobu Yazawa

Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia.

Abstract. We report an autopsy case of a 77-year-old Japanese man with a 7-year history of progressive unilateral left limb dystonia and arm levitation. Brain computed tomography showed fronto-temporal atrophy. The patient was diagnosed as having corticobasal degeneration. Histopathologically, the cerebral cortices, especially of the parasagittal region, and subcortical nuclei revealed numerous Gallyas/tau-positive cytoplasmic inclusions characteristic of progressive supranuclear palsy (PSP). Grumose degeneration was evident in the dentate nucleus. Astrocytic plaques were not present, but a small number of ballooned neurons were found in the fronto-temporal regions. The involvement by the PSP lesions was quite asymmetric in the affected areas, including the frontal cortices, basal ganglia, red nuclei, and inferior olivary nuclei, being more prominent on the side contralateral to the side of limb dystonia. The apparent unilateral dominance of PSP pathology may be relevant to the asymmetric clinical presentation of this patient.

Noradrenergic nerve fibers of the rectal mucosa in autonomic disorders" comparison of histochemical study with clinical severity and changes in plasma noradrenaline induced by standing

A histochemical study was carried out on the rectal mucosae biopsied from 20 patients with autonomic dysfunctions and 13 controls using a catecholamine fluorescent staining method, and the rectal noradrenergic nerve fiber lesions were compared with the severity of autonomic symptoms and disturbance of plasma noradrenaline increase in response to standing in 17 patients. In 9 patients with type I familial amyloid polyneuropathy and 1 with acute pandysautonomia, the number of fluorescent nerve fibers was greatly reduced, and the degree of depletion correlated well with the other 2 parameters showing the severity of autonomic dysfunction. In contrast, rectal noradrenergic nerve fibers were normally preserved in 10 patients with multiple system atrophy, although they suffered from severe autonomic symptoms with poor noradrenaline response to the postural loading. It is concluded that noradrenergic nerve fiber lesions in the biopsied rectal mucosa may represent the systemic involvement of sympathetic post-ganglionic nerves.

The correlation between muscle magnetic resonance images and histopathological findings in a patient with myotonic dystrophy

We examined the correlation between magnetic resonance images (MRI) and histopathological findings in a patient with myotonic dystrophy. Tl-weighted images showed more severe abnormalities in the distal muscles than in the proximal muscles in the lower extremity. Histopathological examination showed the progression of muscle disorganization, degeneration, necrosis and atrophy in areas in which the distribution of high intensity signals was increased on Tl-weighted images. Our findings suggest that histopathological changes in the muscles of patients with myotonic dystrophy can be evaluated using Tl-weighted images.

Extrinsic and Intrinsic Nerve Lesions of the Intestine in Type I Familial Amyloid Polyneuropathy

To demonstrate the severity of the extrinsic and intrinsic nerve lesions in the intestine of type I familial amyloid polyneuropathy (FAP), we studied the rectum of 14 FAP patients (10 biopsy and 4 autopsy cases), using histochemistry and immunohistochemistry. Noradrenaline fluorescent nerve fibers in the rectal mucosae and silver impregnated axons in the nerve bundles in the outer space of the rectum were markedly depleted in FAP. However, s-100 protein, VIP and PHM immunoreactive nerves were normally distributed in the rectum of FAP patients. Severe degeneration of the intestinal extrinsic nerves may occur from an early stage of this disease, whereas the intrinsic nerves are relatively well preserved even in the advanced case. This selectivity of the intestinal nerve damage is presumed to produce the characteristic bowel dysfunction in FAP.

Treatment of autonomic disorders in familial amyloid polyneuropathy with l-threo-3,4-dihydroxyphenilserine

Familial amyloid polyneuropathy (FAP) is a hereditary systemic amyloidosis characterized by polyneuropathy and severe autonomic disorders1. Autonomic disorders of FAP include orthostatic hypotension, gastrointestinal symptoms, urinary disturbance and impotence. Among them, orthostatic hypotension restricts activities of patients, but there has been no beneficial treatment. Recent reports showed6,7 that the intravenous or oral administration either of L-or DL-threo-3,4-dihydroxyphenylserine (L-,DL-DOPS) had a short term effect on orthostatic hypotension of FAP. In this paper we evaluated the effet of the oral administration of L-DOPS on the orthostatic hypotension and the gastrointestinal symptoms in FAP.