Novel Pathogenic Variant of <i>SPAST</i> (c.1413+4A&gt;G) in a Patient with Hereditary Spastic Paraplegia

Yang, Jiwon; Seo, Ja Young; Lee, Kwang Woo; Park, Hyeon Mi

doi:10.3988/jcn.2019.15.1.120

Cited by 2 publications

(4 citation statements)

References 7 publications

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“…It is interesting that the reported patient did not present with muscle weakness but only isolated lower limb spasticity 1. In addition to spasticity and muscle weakness, pure forms of HSP may also present with sensory disturbances or urinary dysfunction.…”

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confidence: 73%

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Pure or Complex Hereditary Spastic Paraplegia Type 4?

Finsterer

2019

J Clin Neurol

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confidence: 73%

“…We read with interest the article by Yang et al1 about a 45-year-old male with hereditary spastic paraplegia (HSP) due to the mutation c.1413A>G in SPAST . Below we present our comments and concerns about their study.…”

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confidence: 99%

Pure or Complex Hereditary Spastic Paraplegia Type 4?

Finsterer

2019

J Clin Neurol

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“…HSP, CMT, and ALS are autosomal dominant diseases with genetic heterogeneity and can lead to weakness in both lower extremities [ 8 , 14 , 16 ]. ALS is characterized by the death of motor neurons in the brain, brainstem, and spinal cord and involves the axons and myelin of both upper and lower motor neurons [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

“…HSP is caused by mutations in 72 different genes (SPG1–SPG72) [ 7 ]. Spastic paraplegia type 4 (SPG4) is the most common form of HSP, accounting for approximately 50% of the HSP genotypes [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

Xu¹,

Peng

Zhou

et al. 2021

Case Reports in Genetics

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Background. Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.1496G>A, p.Arg499His) and a nonsense mutation in the NEFH gene (c.289G>T, p.Glu97 ∗ ) via whole-exome sequencing; this finding corroborated that of Sanger sequencing. The patient exhibited the pure SPG4 phenotype with onset during childhood. The SPAST mutation was absent in the parents and paternal relatives. However, the NEFH mutation was identified in five people with no clinical phenotype. Based on theoretical conjecture and the family gene segregation information, we concluded that the SPAST mutation, but not the NEFH mutation, accounted for the proband’s phenotype. Eventually, the woman gave birth to a healthy baby girl with the NEFH mutation. Conclusion. In this report, we identified a missense mutation in the SPAST gene (p.Arg499His) in a 27-year-old pregnant Chinese woman with HSP. We believe that this study expands the knowledge about the clinical parameters and mutation spectrum of SPG4.

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Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia

Cited by 2 publications

References 7 publications

Pure or Complex Hereditary Spastic Paraplegia Type 4?

Pure or Complex Hereditary Spastic Paraplegia Type 4?

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

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