Perrault syndrome: evidence for progressive nervous system involvement

American Journal of Medical Genetics. Part a
Agata FiumaraJ M Opitz

Abstract

Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non-progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal-cerebellar degeneration.

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Citations

Nov 1, 2011·Journal of Neurology·Emma M JenkinsonWilliam G Newman
Apr 6, 2011·Proceedings of the National Academy of Sciences of the United States of America·Sarah B PierceMary-Claire King
Oct 23, 2012·Indian Journal of Endocrinology and Metabolism·K H Noorul Ameen, Rakesh Pinninti
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Jun 5, 2016·Oral Diseases·A U RehmanA J Griffith
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