Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

被引：38

作者：

Weisfeld-Adams, James D. ^{[1
,2
,3
]}

Sand, Ilana B. Katz ^{[4
]}

Honce, Justin M. ^{[5
]}

Lublin, Fred D. ^{[4
]}

机构：

[1] Univ Colorado, Sch Med, Dept Paediat, Div Clin Genet & Metab, Aurora, CO 80045 USA

[2] Childrens Hosp Colorado, Inherited Metab Dis Clin, Aurora, CO 80045 USA

[3] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[4] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA

[5] Univ Colorado, Sch Med, Dept Radiol, Aurora, CO 80045 USA

来源：

BRAIN | 2015年 / 138卷

关键词：

multiple sclerosis; misdiagnosis; inherited disease; mitochondrial disease; X-LINKED ADRENOLEUKODYSTROPHY; WHITE-MATTER LESIONS; GENOTYPE-PHENOTYPE CORRELATION; HEREDITARY SPASTIC PARAPLEGIA; RESONANCE-IMAGING FINDINGS; ONSET ALEXANDER-DISEASE; OPTIC NEUROPATHY; FABRY-DISEASE; CEREBROSPINAL-FLUID; INBORN-ERRORS;

D O I：

10.1093/brain/awu397

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis.

引用

页码：517 / 539

页数：23

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