New insights into genetic white matter disorders
نویسندگان
چکیده
This commentary is on the original article by Knuutinen et al. pages 1066–1074 of this issue. Leukodystrophies and leukoencephalopathies, a heterogeneous set conditions now often referred to as ‘genetic white matter disorders’ (GWMDs), have been problematic for diagnosis treatment. Three major phases marked studies into GWMDs. First, with advent widespread use magnetic resonance imaging (MRI) in 1990s early 2000s, GWMDs were recognized distinct clinical disease entities.1 The second third overlapping occurred over past 15 years: field has focused improving these including newborn infant screening; using epidemiological database approaches determine incidence, prevalence, burden GWMD.2 provide important insights GWMDs.3 In long-term, longitudinal, population-based study pediatric GWMDs, authors report 80 patients 30 years data.3 They birth incidence per 100 000 live births (1 3333 births), natural history data collection from northern Finland. Impressively, corresponds very closely two other recent estimates.4, 5 Thus, different populations, considering both ‘classic’ (such adrenoleukodystrophy) more recently identified (e.g. tRNA synthetase gene mutations), reached relative consensus close 1 3000 did note an increased rate GWMD decade their study, potentially suggesting that increasing familiarity diagnostic testing (MRI, genetic testing), could significant effect determination. An implication arising related publications4, may occur at relatively standard any given population. arises matching incidences, despite methods calculation distribution types. For example, there no cases Pelizaeus-Merzbacher or leukoencephalopathy vanishing matter. similar incidences suggests mutation rates risk constant. With others, I believe we are ending earlier, descriptive study. new phase will be developing delivering therapies, goal can all excited about.
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2021
ISSN: ['1469-8749', '0012-1622']
DOI: https://doi.org/10.1111/dmcn.14891