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M Umi

Publications and source records attributed to M Umi.

6 recordsLinked to original sources
PubMed2000

[A patient presented with atypical paroxysmal kinesigenic choreoathetosis and Becker muscular dystrophy].

A 22-year-old man had choreatic movements in upper limbs, neck and trunk for over twelve years which were associated with dystonia in lower limbs upon initiating voluntary movements. The choreatic movement lasted for a few seconds and the dystonia lasted for a few minutes. He also had high serum CK levels and hypertrophic calf muscles. His muscle strength and deep tendon reflexes were normal. His choreatic movements fulfill the criteria for paroxysmal kinesigenic choreoathetosis (PKC). However, it was unclear what the symptom of dystonia was due to. From a muscle biopsy and DNA analysis, he was diagnosed as having Becker muscular dystrophy. Administration of anticonvulsant improved the dystonia as well as the choreatic movement, which showed that the dystonia was a symptom of PKC. Coincidence of choreatic movements and dystonias which had different lasting time in a patient of PKC was atypical and had not previously reported.

Adult↗
PubMed1998

Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.

We report on seven Japanese families with spinocerebellar ataxia type 6 (SCA6) carrying small CAG repeat expansions in the calcium channel alpha1A subunit gene. The number of the expanded CAG repeat, ranged from 22 to 25, showed no intergenerational instability and had a significant inverse correlation with the age of onset. The clinical features of these patients were late onset progressive pure cerebellar ataxia with dysarthria and nystagmus, and are consistent with autosomal dominant cerebellar ataxia type III (ADCA type III). Magnetic resonance imaging scan of the brain demonstrated cerebellar atrophy with no evidence of brainstem involvement. We propose that clinical phenotype of SCA6 is compatible with ADCA type III and SCA6 is one of the most common types of ADCA in Japan.

Aged↗
PubMed1978

Waldenström's macroglobulinaemia with Ig E M-component.

A case of Waldenström's macroglobulinaemia with Ig E M-component was presented. A 76-year-old Japanese woman had a history of the operation for mammary carcinoma. Although neither lymphadenopathy nor hepatosplenomegaly was present, the immunohaematological findings typical for Waldenström's macroglobulinaemia were observed in this patient. Coexistence of the Ig M and Ig E M-components was recognized in the patient's serum protein. Positive reaction for FITC-conjugated anti-epsilon or rhodamine-conjugated anti-mu was noted in proliferating lymphoplasmacytic cells of the patient's bone marrow, but these reactions were not simultaneously observed in a single cell. The finding suggests that two separate populations of M-component-producing cells were present.

Aged↗