Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a Japanese man with familial parkinsonism who died at age 54. His younger brother, his mother, the mother's 4 brothers, and their mother were also affected with similar parkinsonism. The patient had had nystagmus since adolescence. He noticed difficulty in walking and micrographia at age 42. Neurological examination at age 45 in our hospital revealed pendular nystagmus, moderate rigidity in his neck and upper limbs, postural tremor in hands and shuffling gait. He received L-dopa/benzerazide 200 mg and his movement was mildly improved. Then he developed forced closing of eyelids suggesting either blepharospasms or apraxia of eye lid opening. He became apathetic at age 48. He was admitted to our hospital at age 49. On admission, he showed mild dementia and sexually disinhibited behaviours. Moderate downward gaze palsy and rigidity were seen. Increase of L-dopa/benzerazide and pergolide did not improve his parkinsonism and his disinhibited behaviors became worse. L-dopa/benzerazide and pergolide were decreased and he received electroconvulsive therapy at a psychiatric hospital with temporally improvement in his movement. He became unable to walk at age 52 and he was mutic and bedridden. He died of pneumonia at age 54. The patient was discussed in a neurological CPC, and a chief discussant arrived at the conclusion that the patient had a familial form of dementia with Lewy bodies. Many participants thought that he had frontotemporal dementia and parkinsonism linked to chromosome 17. The pathological examination of his brain showed severe neuronal loss in the substantia nigra, subthalamus, and pallidum. Ballooned neurons were observed in the cerebral cortex. Immunohistochemistry using anti-tau antibodies revealed tau-positive neurons, glial cells and threads in the cerebral cortex, white matter and subcortical nuclei; these tau deposition reacted with an anti-4-repeat tau antibody, but not reacted to an anti-3-repeat tau antibody. Sequencing of genomic DNA of the patient showed a missense mutation in exon 10 of tau that caused a substitution at codon N279K. These neuropathological and molecular studies revealed the diagnosis of the patient was FTDP-17 with N279K mutation.
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PMID:[A 54-year-old man with familial parkinsonism, gaze palsy, and dementia]. 1637 98