Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

被引:48
作者
Beerepoot, Shanice [1 ,2 ,3 ]
Nierkens, Stefan [3 ,5 ,6 ]
Boelens, Jaap Jan [3 ,4 ]
Lindemans, Caroline [5 ,6 ,7 ]
Bugiani, Marianna [8 ]
Wolf, Nicole I. [1 ,2 ]
机构
[1] Vrije Univ Amsterdam, Dept Child Neurol, Emma Childrens Hosp, Amsterdam UMC, De Boelelaan 1117, Amsterdam, Netherlands
[2] Amsterdam Neurosci, De Boelelaan 1117, Amsterdam, Netherlands
[3] Univ Med Ctr Utrecht, Ctr Translat Immunol, Utrecht, Netherlands
[4] Mem Sloan Kettering Canc Ctr, Dept Pediat Stem Cell Transplant & Cellular, 1275 York Ave, New York, NY 10021 USA
[5] Princess Maxima Ctr, Pediat Blood & Marrow Transplantat Program, Utrecht, Netherlands
[6] Univ Med Ctr Utrecht, Utrecht, Netherlands
[7] Univ Med Ctr Utrecht, Regenerat Med Inst, Utrecht, Netherlands
[8] Vrije Univ Amsterdam, Amsterdam UMC, Dept Pathol, De Boelelaan 1117, Amsterdam, Netherlands
关键词
Metachromatic leukodystrophy; ARSA gene mutation; Lysosomal storage disorder; Neuropathy; Leukodystrophy; Demyelinating; CORD BLOOD TRANSPLANTATION; STEM-CELL TRANSPLANTATION; INTRACEREBRAL GENE-THERAPY; CRANIAL NERVE ENHANCEMENT; MOUSE MODEL; LATE-INFANTILE; ARYLSULFATASE-A; EARLY-ONSET; ULTRASTRUCTURAL FINDINGS; MISSENSE MUTATION;
D O I
10.1186/s13023-019-1220-4
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of sulfatides in neural and visceral tissues, and causes demyelination of the central and peripheral nervous system. This leads to a broad range of neurological symptoms and eventually premature death. In asymptomatic patients with juvenile and adult MLD, treatment with allogeneic hematopoietic stem cell transplantation (HCT) provides a symptomatic and survival benefit. However, this treatment mainly impacts brain white matter, whereas the peripheral neuropathy shows no or only limited response. Data about the impact of peripheral neuropathy in MLD patients are currently lacking, although in our experience peripheral neuropathy causes significant morbidity due to neuropathic pain, foot deformities and neurogenic bladder disturbances. Besides, the reasons for residual and often progressive peripheral neuropathy after HCT are not fully understood. Preliminary studies suggest that peripheral neuropathy might respond better to gene therapy due to higher enzyme levels achieved than with HCT. However, histopathological and clinical findings also suggest a role of neuroinflammation in the pathology of peripheral neuropathy in MLD. In this literature review, we discuss clinical aspects, pathological findings, distribution of mutations, and treatment approaches in MLD with particular emphasis on peripheral neuropathy. We believe that future therapies need more emphasis on the management of peripheral neuropathy, and additional research is needed to optimize care strategies.
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页数:13
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