Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese

Dong, Yue; Li, Xuying; Xl, Wang; Xu, Fanxi; Wang, Zhanjun; Yang, Song; Li, Qibin; Lin, Ruichai; Wang, Chaodong

doi:10.1016/j.neulet.2021.136108

Cited by 8 publications

(2 citation statements)

References 29 publications

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“…10 SPG11 was the most frequent cause of autosomal recessive HSP in our cohort, which is in line with several studies on adult HSP. [10][11][12] The age at onset is usually in the second decade of life, most frequently presenting with walking problems due to progressive lower limb spasticity. Notably, two out of three patients with SPG11-related HSP displayed dysplasia of the corpus callosum on MRI.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children

Wang

Fang

Ding

et al. 2022

Develop Med Child Neuro

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Hereditary spastic paraplegias (HSPs) are a group of genetically and clinically diverse inherited neurological disorders affecting around 2 to 8 in 10 0000 individuals across different populations. [1][2][3] They are characterized by progressive lower limb weakness and muscle stiffness (spasticity) due to pyramidal tract dysfunction. This lower limb weakness and spasticity can be associated with other neurological or nonneurological symptoms (complex forms, cHSP) or in relative isolation (pure forms, pHSP). 4 To date, more than 80 genetic subtypes of HSPs have been identified. The age at onset is spread across a wide range, from infancy to old age; however, HSP is usually reported in adults, and paediatric-onset

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children

Wang

Fang

Ding

et al. 2022

Develop Med Child Neuro

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“…This frameshift mutation possibly leads to the loss of some amino acid residues in the final protein product and causes loss of function. To date, there have been 62 mutations reported for SPG15 ( Table 1 ) ( 5 , 14 – 18 , 21 , 25 , 26 , 29 , 31 – 38 ). There are 62.90% (39/62) missense mutations, 29.03% (18/62) deletion mutations, 3.23% (2/62) duplication mutations, and 8.06% (5/62) insertion mutations ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26

Lai,

Liu,

Song

et al. 2023

Front. Neurol.

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Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with genetic and clinical heterogeneity characterized by spasticity and weakness of the lower limbs. It includes four genetic inheritance forms: autosomal dominant inheritance (AD), autosomal recessive inheritance (AR), X-linked inheritance, and mitochondrial inheritance. To date, more than 82 gene loci have been found to cause HSP, and SPG15 (ZFYVE26) is one of the most common autosomal recessive hereditary spastic paraplegias (ARHSPs) with a thin corpus callosum (TCC), presents with early cognitive impairment and slowly progressive leg weakness. Here, we reported a homozygous pathogenic variant in ZFYVE26. A 19-year-old Chinese girl was admitted to our hospital presenting with a 2-year progressive bilateral leg spasticity and weakness; early cognitive impairment; corpus callosum dysplasia; chronic neurogenic injury of the medulla oblongata supplied muscles; and bilateral upper and lower limbs on electromyogram (EMG). Based on these clinical and electrophysiological features, HSP was suspected. Exome sequencing of the family was performed by high-throughput sequencing, and an analysis of the patient showed a ZFYVE26 NM_015346: c.7111dupA p.(M2371Nfs*51) homozygous mutation. This case reported a new ZFYVE26 pathogenic variant, which was different from the SPG15 gene mutation reported earlier.

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Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

et al. 2023

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Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese

Cited by 8 publications

References 29 publications

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

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