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Five cases of a Joseph disease family with non-REM sleep apnea and MRI study

Journal Article:

Abstract

Four male and one female patients of a new Joseph disease family in southern Kyushu are presented. This disorder is inherited by autosomal dominant trait. The clinical symptoms are characterized by bulging eyes, ophthalmoplegia, dysarthria, rigospasticity of the lower limbs, marked dystonia and bradykinesia. In our cases, extrapyramidal symptoms were improved by amantadine and L-dopa therapy. CSF homovanilic acid (HVA) was markedly reduced. Muscle biopsy and electromyographic studies revealed neurogenic changes. MRI revealed mild atrophy of frontal lobe and cerebellum, and marked atrophy of brain stem. These findings were consistent with the clinical manifestations. Our case had central type sleep apnea by sleep EEG and polygraphic studies. This is the first report about sleep apnea and MRI of Joseph disease.
Publication Date:
Sep 01, 1987
Product Type:
Journal Article
Reference Number:
JPN-88-061511; EDB-88-068581
Resource Relation:
Journal Name: Rinsho Shinkeigaku; (Japan); Journal Volume: 27:9
Subject:
62 RADIOLOGY AND NUCLEAR MEDICINE; 59 BASIC BIOLOGICAL SCIENCES; AUTONOMIC NERVOUS SYSTEM; HEREDITARY DISEASES; BRAIN; NMR IMAGING; ATROPHY; BREATH; CEREBROSPINAL FLUID; CONGENITAL DISEASES; IMAGES; NERVOUS SYSTEM DISEASES; PATIENTS; SENSE ORGANS DISEASES; SLEEP; BIOLOGICAL MATERIALS; BODY; BODY FLUIDS; CENTRAL NERVOUS SYSTEM; DIAGNOSTIC TECHNIQUES; DISEASES; MATERIALS; NERVOUS SYSTEM; ORGANS; PATHOLOGICAL CHANGES; 550602* - Medicine- External Radiation in Diagnostics- (1980-); 550100 - Behavioral Biology
OSTI ID:
5480431
Research Organizations:
Miyazaki Medical Coll., Kiyotake, Japan
Country of Origin:
Japan
Language:
Japanese
Other Identifying Numbers:
Journal ID: CODEN: RISHB
Submitting Site:
JPN
Size:
Pages: 1180-1184
Announcement Date:
Mar 01, 1988

Journal Article:

Citation Formats

Kitamura, Junichi, Tsuruta, Kazuhito, Yamamura, Yoshinori, Kurihara, Teruyuki, and Matsukura, Shigeru. Five cases of a Joseph disease family with non-REM sleep apnea and MRI study. Japan: N. p., 1987. Web.
Kitamura, Junichi, Tsuruta, Kazuhito, Yamamura, Yoshinori, Kurihara, Teruyuki, & Matsukura, Shigeru. Five cases of a Joseph disease family with non-REM sleep apnea and MRI study. Japan.
Kitamura, Junichi, Tsuruta, Kazuhito, Yamamura, Yoshinori, Kurihara, Teruyuki, and Matsukura, Shigeru. 1987. "Five cases of a Joseph disease family with non-REM sleep apnea and MRI study." Japan.
@misc{etde_5480431,
title = {Five cases of a Joseph disease family with non-REM sleep apnea and MRI study}
author = {Kitamura, Junichi, Tsuruta, Kazuhito, Yamamura, Yoshinori, Kurihara, Teruyuki, and Matsukura, Shigeru}
abstractNote = {Four male and one female patients of a new Joseph disease family in southern Kyushu are presented. This disorder is inherited by autosomal dominant trait. The clinical symptoms are characterized by bulging eyes, ophthalmoplegia, dysarthria, rigospasticity of the lower limbs, marked dystonia and bradykinesia. In our cases, extrapyramidal symptoms were improved by amantadine and L-dopa therapy. CSF homovanilic acid (HVA) was markedly reduced. Muscle biopsy and electromyographic studies revealed neurogenic changes. MRI revealed mild atrophy of frontal lobe and cerebellum, and marked atrophy of brain stem. These findings were consistent with the clinical manifestations. Our case had central type sleep apnea by sleep EEG and polygraphic studies. This is the first report about sleep apnea and MRI of Joseph disease.}
journal = {Rinsho Shinkeigaku; (Japan)}
volume = {27:9}
journal type = {AC}
place = {Japan}
year = {1987}
month = {Sep}
}