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A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Kilic MA, Yildiz EP, Deniz A, Coskun O, Kurekci F, Avci R, Genc HM, Yesil G, Akbas S, Yesilyurt A, Kara B. Kilic MA, et al. Pediatr Neurol. 2024 Mar;152:189-195. doi: 10.1016/j.pediatrneurol.2024.01.005. Epub 2024 Jan 6. Pediatr Neurol. 2024. PMID: 38301322
In our cohort, there were two subjects each with SPG11, SPG46, and SPG 50 followed by single subject each with SPG3A, SPG4, SPG7, SPG8, SPG30, SPG35, SPG43, SPG44, SPG57, SPG62, infantile-onset ascending spastic paralysis (IAHSP), and spastic paraplegia and psychomotor ret …
In our cohort, there were two subjects each with SPG11, SPG46, and SPG 50 followed by single subject each with SPG3A, SPG4, SPG7, SPG8, S …
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L. Cao Y, et al. Mov Disord. 2024 Jan 31. doi: 10.1002/mds.29728. Online ahead of print. Mov Disord. 2024. PMID: 38291924
RESULTS: We made a genetic diagnosis in 60% (162/270) of patients, of whom 48.9% (132/270) had 24 various subtypes due to point mutations (SPG4/SPG11/SPG35/SPG7/SPG10/SPG5/SPG3A/SPG2/SPG76/SPG30/SPG6/SPG9A/SPG12/SPG15/SPG17/SPG18/SPG26/SPG49/SPG55/SPG56/SPG57/SPG62/SPG78/S …
RESULTS: We made a genetic diagnosis in 60% (162/270) of patients, of whom 48.9% (132/270) had 24 various subtypes due to point mutations (S …
Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. ...
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and ne …
Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.
Lee B, Song HH, Kim YR, Kim JH, Cho ST, Lee JH, Kim UK, Park JS. Lee B, et al. Gene. 2023 Jun 20;870:147403. doi: 10.1016/j.gene.2023.147403. Epub 2023 Mar 30. Gene. 2023. PMID: 37001573
SPG30 is a newly categorized type of HSP caused by variants in the kinesin family member 1A gene (KIF1A). ...Here, we report a Korean family with a rare homozygous autosomal-recessive form of SPG30. A 59-year-old man and his father presented with an uncomplicated, m …
SPG30 is a newly categorized type of HSP caused by variants in the kinesin family member 1A gene (KIF1A). ...Here, we report a Korean …
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.
Liao P, Yuan Y, Liu Z, Hou X, Li W, Wen J, Zhang K, Jiao B, Shen L, Jiang H, Guo J, Tang B, Zhang Z, Hu Z, Wang J. Liao P, et al. Transl Neurodegener. 2022 Oct 26;11(1):46. doi: 10.1186/s40035-022-00320-2. Transl Neurodegener. 2022. PMID: 36284339 Free PMC article.
Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 (SPG30) share several causative genes with ALS, as well as having common clinical phenotypes. KIF1A encodes a kinesin 3 motor that transp …
Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 ( …
Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Hsu SL, Liao YC, Lin KP, Lin PY, Yu KW, Tsai YS, Guo YC, Lee YC. Hsu SL, et al. Parkinsonism Relat Disord. 2022 Oct;103:144-149. doi: 10.1016/j.parkreldis.2022.09.001. Epub 2022 Sep 16. Parkinsonism Relat Disord. 2022. PMID: 36155026
The patients carrying KIF1A p.R316Q also had thoracic cord atrophy, thin corpus callosum and white matter hyperintensity. CONCLUSION: SPG30 accounts for 1.2% (3/242) of patients in the Taiwanese HSP cohort, suggesting that it is an uncommon HSP subtype in Taiwan. This stud …
The patients carrying KIF1A p.R316Q also had thoracic cord atrophy, thin corpus callosum and white matter hyperintensity. CONCLUSION: SPG …
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.
The aim of our study is to detect AD SPG30 cases and to examine their molecular and clinical characteristics for the first time in the Russian population. ...No AR SPG30 cases were detected. In total, 9 heterozygous KIF1A mutations were detected, with 4 novel and 5 …
The aim of our study is to detect AD SPG30 cases and to examine their molecular and clinical characteristics for the first time in th …
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.
Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. Spagnoli C, et al. Ital J Pediatr. 2019 Dec 3;45(1):155. doi: 10.1186/s13052-019-0752-5. Ital J Pediatr. 2019. PMID: 31796088 Free PMC article.
BACKGROUND: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. ...CONCLUSIONS: We report on a previously unpub …
BACKGROUND: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type …
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.
Gabrych DR, Lau VZ, Niwa S, Silverman MA. Gabrych DR, et al. Front Cell Neurosci. 2019 Sep 26;13:419. doi: 10.3389/fncel.2019.00419. eCollection 2019. Front Cell Neurosci. 2019. PMID: 31616253 Free PMC article. Review.
Microtubule motor proteins, or kinesins, are also causal in HSP, specifically mutations in Kinesin-I/KIF5A (SPG10) and two kinesin-3 family members; KIF1A (SPG30) and KIF1C (SPG58). KIF1A is a motor enriched in neurons, and involved in the anterograde transport of a variet …
Microtubule motor proteins, or kinesins, are also causal in HSP, specifically mutations in Kinesin-I/KIF5A (SPG10) and two kinesin-3 family …
22 results