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Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment

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Abstract

The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients. For the purpose of this study, we carried a non-systematic review on PUBMED, finding an initial sample of 122 papers; upon refining, 41 articles were found relevant to this review. Subsequently, we added review articles and works with historical relevance, totalizing 76 references. An adequate diagnostic workup in patients presenting with spastic paraplegia phenotype should include screening for these rare conditions, followed by parsimonious ancillary investigation.

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Authors and Affiliations

  1. Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, Paraná, 80060-150, Brazil

    Hélio A. G. Teive & Léo Coutinho

  2. Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, Paraná, 80060-150, Brazil

    Hélio A. G. Teive, Carlos Henrique F. Camargo & Eduardo R. Pereira

  3. Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada

    Renato P. Munhoz

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  1. Hélio A. G. Teive
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  2. Carlos Henrique F. Camargo
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  3. Eduardo R. Pereira
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  4. Léo Coutinho
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  5. Renato P. Munhoz
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Contributions

HAGT: study concept and design, literature review, writing of the first draft, review and critique, writing of the final manuscript; CHFC: literature review, writing of the first draft; ERP: literature review, writing of the first draft, writing of the final draft; LC: writing of the final manuscript; RPM: study concept and design, writing of the first draft, review and critique, writing of the final manuscript.

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Correspondence to Hélio A. G. Teive.

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Teive, H.A.G., Camargo, C.H.F., Pereira, E.R. et al. Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment. Neurogenetics 23, 167–177 (2022). https://doi.org/10.1007/s10048-022-00688-3

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