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Perrault syndrome: Evidence for progressive nervous system involvement
Author(s) -
Fiumara Agata,
Sorge Giovanni,
Toscano Antonio,
Parano Enrico,
Pavone Lorenzo,
Opitz John M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20616
Subject(s) - peripheral nervous system , medicine , dysgenesis , central nervous system , nervous system , sensory system , peripheral neuropathy , pathology , psychology , neuroscience , anatomy , endocrinology , diabetes mellitus
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. © 2004 Wiley‐Liss, Inc.