OBJECTIVE: To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS). METHODS: The authors studied MR images of 25 patients surviving the first year. Neuroimages were compared to neurologic profiles, PBD-ZeS specific compound developmental scores, and two common PEX1 mutations. RESULTS: Three groups are defined based on normal findings, developmental anomalies, and regressive changes. Regressive changes consisting of leukoencephalopathy were identified in patients who had either stable clinical course or progressive deterioration. Concomitant neocortical atrophy was encountered in a minority. Leukoencephalopathy with stable clinical course represents the largest subgroup (48%). The authors found the central cerebellar white matter a focus for early changes in both asymptomatic and symptomatic leukoencephalopathy. A relationship between white matter involvement in clinically stable leukoencephalopathy and degree of developmental failure could not be established. The common homozygous PEX1 G843D mutation is represented in the three main outcome groups. This result points to variable phenotypic expression of the most common PEX1 mutation. CONCLUSIONS: MR findings in ZeS patients surviving the first year differ from Zellweger syndrome in predominance of regressive over developmental changes. Distribution pattern suggests identical pathomechanisms for symptomatic and asymptomatic leukoencephalopathy.
OBJECTIVE: To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS). METHODS: The authors studied MR images of 25 patients surviving the first year. Neuroimages were compared to neurologic profiles, PBD-ZeS specific compound developmental scores, and two common PEX1 mutations. RESULTS: Three groups are defined based on normal findings, developmental anomalies, and regressive changes. Regressive changes consisting of leukoencephalopathy were identified in patients who had either stable clinical course or progressive deterioration. Concomitant neocortical atrophy was encountered in a minority. Leukoencephalopathy with stable clinical course represents the largest subgroup (48%). The authors found the central cerebellar white matter a focus for early changes in both asymptomatic and symptomatic leukoencephalopathy. A relationship between white matter involvement in clinically stable leukoencephalopathy and degree of developmental failure could not be established. The common homozygous PEX1G843D mutation is represented in the three main outcome groups. This result points to variable phenotypic expression of the most common PEX1 mutation. CONCLUSIONS: MR findings in ZeS patients surviving the first year differ from Zellweger syndrome in predominance of regressive over developmental changes. Distribution pattern suggests identical pathomechanisms for symptomatic and asymptomatic leukoencephalopathy.
Authors: Andrea Mignarri; Claudia Vinciguerra; Antonio Giorgio; Sacha Ferdinandusse; Hans Waterham; Ronald Wanders; Enrico Bertini; Maria Teresa Dotti; Antonio Federico Journal: JIMD Rep Date: 2012-01-29
Authors: Astrid Bottelbergs; Simon Verheijden; Paul P Van Veldhoven; Wilhelm Just; Rita Devos; Myriam Baes Journal: J Neuroinflammation Date: 2012-03-29 Impact factor: 8.322
Authors: Meredith J Ventura; Dianna Wheaton; Mingchu Xu; David Birch; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; Annette E Whitney; Richard O Jones; Ann B Moser; Rui Chen; Michael F Wangler Journal: Mol Genet Metab Rep Date: 2016-11-11
Authors: Kevin Berendse; Marc Engelen; Sacha Ferdinandusse; Charles B L M Majoie; Hans R Waterham; Frédéric M Vaz; Johannes H T M Koelman; Peter G Barth; Ronald J A Wanders; Bwee Tien Poll-The Journal: J Inherit Metab Dis Date: 2015-08-19 Impact factor: 4.982