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Neurological Sciences
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18-12-2024 | Spinal Muscular Atrophy | Letter to the Editor

A rare family of SMA combined with type B Kufs disease

Authors: Feifei Tian, Jing Li, Ziyang Wu, Xin Li, Liangtao Zhao, Zhipeng Yan, Wei Yuan, Haiping Wei, Kai Li, Guode Wu

Published in: Neurological Sciences | Issue 4/2025

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Excerpt

Spinal muscular atrophy (SMA) is a relatively rare autosomal recessive neurodegenerative disease, characterised by skeletal muscle weakness and atrophy. It is caused by mutations in the survival motor neuron 1 (SMN1) gene [1]. Neuronal ceroid-lipofuscinosis (NCL) is a rare lysosomal lipid storage disorder characterised by the pathological accumulation of lipopigments within lysosomes [2]. Autosomal recessive ANCL is also known as Kufs disease, which clinically presents as progressive myoclonic epilepsy, behavioural abnormalities, dementia, ataxia, late-onset pyramidal and extrapyramidal symptoms, usually without visual impairment [2]. To our knowledge, there have been no reports of SMA combined with Kufs disease. Here we report a family with both SMA and ANCL. …
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Literature
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Kaminiow K, Kozak S, Paprocka J (2022) Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis. Int J Mol Sci 23
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Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ (2019) Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol 18:107–116CrossRefPubMed
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Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M (2013) Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet 22:1417–1423CrossRefPubMedPubMedCentral
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Metadata
Title
A rare family of SMA combined with type B Kufs disease
Authors
Feifei Tian
Jing Li
Ziyang Wu
Xin Li
Liangtao Zhao
Zhipeng Yan
Wei Yuan
Haiping Wei
Kai Li
Guode Wu
Publication date
18-12-2024
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 4/2025
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-024-07949-z

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