An Unusual Presentation of Copper Metabolism Disorder and a Possible Connection With Niemann-Pick Type C

Author:

Goez Helly R.1,Jacob Francois D.2,Fealey Robert D.3,Patterson Marc C.4,Ramaswamy Vijay2,Persad Rabin5,Johnson Edward S.6,Yager Jerome Y.2

Affiliation:

1. Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada,

2. Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada

3. Department of Neurology, Mayo Clinic Rochester, Rochester, Minnesota, USA

4. Division of Child and Adolescent Neurology, Mayo Clinic Rochester, Rochester, Minnesota, USA

5. Division of Pediatric Gastroenterology, University of Alberta, Edmonton, Alberta, Canada

6. Division of Anatomical Pathology, University of Alberta, Edmonton, Alberta, Canada

Abstract

Abnormal copper metabolism has been linked with neurological disorders, such as Wilson and Menkes disease. Another disorder causing symptoms similar to copper metabolism disorder is Niemann-Pick type C. However, a definite pathophysiological connection between Niemann-Pick type C and copper metabolism disorders has never been established. The authors present an adolescent with an unusual presentation of copper deficiency—dysarthria, ataxia, and vertical gaze paresis, without significant cognitive degeneration or pathological magnetic resonance imaging (MRI). The patient was found to carry 2 mutations in the NPC1 gene. A possible link, explaining how copper deficiency might induce the Niemann-Pick phenotype might involve overproduction of cholesterol and inhibition of acid sphingomyelinase. We suggest that copper metabolism disorders be included in the differential diagnosis for ataxia and dysarthria, even in cases with unusual presentations. Moreover, should the connection between copper and Niemann-Pick be validated, screening for copper metabolism disorders may be advisable in Niemann-Pick type C patients and vice-versa.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Recent Advances in Preclinical Studies of the Theranostic Agent [64Cu]CuCl2;Molecules;2024-08-28

2. Wilson disease;Current Opinion in Neurology;2020-06-09

3. ATP7B Function;Wilson Disease;2019

4. Update on the Diagnosis and Management of Wilson Disease;Current Gastroenterology Reports;2018-11-05

5. Wilson’s Disease;Neurometabolic Hereditary Diseases of Adults;2018

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