A Mother and a Child with Maternally Inherited Diabetes and Deafness (MIDD) Showing Atrophy of the Cerebrum, Cerebellum and Brainstem on Magnetic Resonance Imaging (MRI)
スポンサーリンク
概要
- 論文の詳細を見る
A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A→G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.
- 社団法人 日本内科学会の論文
- 2005-04-01
著者
-
WATABIKI Sadakiyo
Department of Neurology, Musashino Red Cross Hospital
-
Tsunemi Taiji
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Tsunemi Taiji
Department Of Neurology Musashino Redcross Hospital
-
KOBAYASHI Zen
Department of Neurology, Musashino Redcross Hospital
-
Kobayashi Zen
Department Of Neurology Musashino Redcross Hospital
-
MIAKE Hirotomo
Department of Neurology, Musashino Redcross Hospital
-
TANAKA Seiichi
Department of Neurology, Musashino Redcross Hospital
-
MOROKUMA Yuri
Endocrine-Metabolism, Musashino Redcross Hospital
-
Morokuma Yuri
Endocrine-metabolism Musashino Redcross Hospital
-
Miake Hirotomo
Department Of Neurology Musashino Redcross Hospital
-
Watabiki Sadakiyo
Department Of Neurology Musashino Redcross Hospital
-
Tanaka Seiichi
Department Of Agricultural Chemistry Nagoya University
-
Kobayashi Zen
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Tanaka Seiichi
Department Of Neurology Musashino Redcross Hospital
関連論文
- Neuro-Behçets/Neuro-Sweets Disease Presents Simultaneously with Severe Tonsillitis, and Features Mimicking Bacterial Meningitis with Skin Lesions
- Selective enlargement of the fourth ventricle in Machado-Joseph disase: With special reference to the neuroradiological and neuropathological correlation
- Immunohistochemical Diagnosis of Cryptococcus neoformans var. gattii Infection in Chronic Meningoencephalitis : the First Case in Japan
- Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists : Additional autopsy case with a clinical course of 19 years
- Brain MRI of Hereditary Hemorrhagic Telangiectasia (HHT) with Intrahepatic Arteriovenous Shunts
- Coexistence of CJD and Alzheimer's disease : An autopsy case showing typical clinical features of CJD
- Sporadic amyotrophic lateral sclerosis with circumscribed temporal atrophy : A report of an autopsy case without dementia and with ubiquitinated intraneuronal inclusions
- Parkinson's disease mimicking senile dementia of the Alzheimer type : a clinicopathological study of four autopsy cases
- Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
- Fatal Encephalitis in a Case of Hypereosinophilic Syndrome: MRI and Autopsy Findings
- Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"
- Analyses of copy number and mRNA expression level of the α-synuclein gene in multiple system atrophy
- A Mother and a Child with Maternally Inherited Diabetes and Deafness (MIDD) Showing Atrophy of the Cerebrum, Cerebellum and Brainstem on Magnetic Resonance Imaging (MRI)
- PA54 SPOROGEN-AO 1, AN ASEXUAL SPOROGENIC SUBSTANCE OF ASPERGILLUS ORYZAE
- Morel's laminar sclerosis showing apraxia of speech : Distribution of cortical lesions in an autopsy case
- Differential diagnosis of CNS lymphomatoid granulomatosis
- Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy
- Comparative study between high-dose fluvastatin and low-dose fluvastatin and ezetimibe with regard to the effect on endothelial function in diabetic patients
- A case report of type 2 diabetes mellitus with biatrial thrombi and pulmonary embolism caused by atrial fibrillation : successful treatment with anticoagulant therapy
- Epstein-Barr virus-Associated Meningitis Presenting with Hearing Impairment
- Isolation of Sporogen-AO1, a Sporogenic Substance, from Aspergillus oryzae
- Structures of TwoNewSesquiterpenes from Aspergillus oryzae
- Spinal Cord Herniation which Manifested Stepwise Deterioration