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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia.

We studied a 59-year-old woman with dementia, retinitis pigmentosa, sensorimotor neuropathy, and attacks of vomiting associated with blood pressure lability and loss of consciousness. Abnormalities included CT evidence of cerebral atrophy, low IQ, slow central and peripheral nerve conduction velocities, axonal degeneration in sural nerve biopsy, and elevated levels of catecholamines and slow waves in EEG during attacks. Her sister, two brothers, and daughter also had progressive muscle weakness, visual disturbance, and similar vomiting attacks. The hereditary nervous system disorder does not fit any previously described condition.[1]

References

  1. Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia. Ozawa, K., Saida, K., Saida, T., Imoto, K., Nishitani, H. Neurology (1985) [Pubmed]
 
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