Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia telangiectasia (AT) is a hereditary disease that involves both the immune and nervous system; its pathogenesis is believed to be due to disturbances in DNA repair system. Because children are usually affected, reports concerning adult patients are rare. In the present study, we performed comprehensive clinical, histological, and radiobiological examinations on two adult female siblings, currently 23 and 19 years old. The initial symptom was an ataxic gait, which began in the elder sister at the age of 20 and the younger sister at the age of 18. Both had mild telangiectasia in the bulbar conjunctiva and auricula. The neurological manifestations of both were gaze nystagmus, cerebellar ataxia, hyporeflexia, and vibratory sensation disturbance. Only the elder sister showed stocking type sensory disturbance. The MRI of both patients revealed cerebellar atrophy, especially in vermis. After either X-ray irradiation or bleomycin treatment, fibroblast survival curve showed a marked, dose-dependent declined in both patients compared with normal controls. Similar patterns were observed in both patients. After bleomycin treatment, no differences in the survival ratio of cultured fibroblasts could be found between these adult patients and those observed in younger children with classic AT. Biopsied sural nerves showed a decrease in the number of large myelinated fibers, with a few myelinated axons having relatively thin myelin. There were severe atrophic changes, with regenerative myelinated fibers in the elder sister. In conclusion, both adult patients with delayed onset AT displayed similar bleomycin hypersensitivity in fibroblasts as would be expected in children with AT. Radiobiological examinations and sural nerve biopsy suggest that both disturbed cellular regeneration and atrophic process may play a role in the neural involvement in this disease.
 ...
PMID:[Histological and radiobiological study on adult cases with ataxia telangiectasia]. 751 54

Fourteen days after Japanese B encephalitis (JBE) vaccination, a 4-year-old girl developed the full clinical manifestation of ATM within 24h. She showed acute ascending flaccid paraplegia with sensory disturbance, bladder dysfunction and meningeal sign. Cerebrospinal fluid examination revealed neutrophil pleocytosis and elevated protein level. Magnetic resonance imaging (MRI) showed diffuse swelling of the cervical and lumbar cord with low signal intensity on T1 and high signal intensity on T2-weighted imaging. These findings suggested that she had developed meningo-radiculomyelopathy. Since sequential MRI studies showed prompt reduction of the cord swelling, the high-dose methylprednisolone therapy employed seemed to have been effective for improvement of inflammation. Even with such potent drug treatment, she still has substantial flaccid diplegia and sphincter disorder 1 year later, and so we are convinced that the pathological change of the cord was as severe as in necrotizing myelopathy. Although the pathological process remains unknown, cellular autoimmune mechanism against the JBE vaccination is suspected.
 ...
PMID:Acute transverse myelitis after Japanese B encephalitis vaccination in a 4-year-old girl. 1193 18