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Page 1
Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.
Siow SF, Yeow D, Rudaks LI, Jia F, Wali G, Sue CM, Kumar KR. Siow SF, et al. Genes (Basel). 2023 Sep 3;14(9):1756. doi: 10.3390/genes14091756. Genes (Basel). 2023. PMID: 37761896 Free PMC article. Review.
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. ...Seventy studies met the inclusion criteria, and eighty-three outcome measures were identified. The Spastic Paraplegia Rating Scale (SPRS) was the most
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. ...Seventy studies met the i
[AAA ATPases and hereditary spastic paraplegia].
Wang YG, Shen L. Wang YG, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2009.03.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19504443 Review. Chinese.
The hereditary spastic paraplegias (HSPs or SPGs) are clinically and genetically highly heterogeneous neurodegenerative disorders mainly characterized by progressive spasticity and weakness in the lower limbs. The inheritance mode includes autosomal dominant(AD-HSP) …
The hereditary spastic paraplegias (HSPs or SPGs) are clinically and genetically highly heterogeneous neurodegenerative disord …
Recent advances in hereditary spastic paraplegia.
Tallaksen CM, Dürr A, Brice A. Tallaksen CM, et al. Curr Opin Neurol. 2001 Aug;14(4):457-63. doi: 10.1097/00019052-200108000-00005. Curr Opin Neurol. 2001. PMID: 11470961 Review.
The hereditary spastic paraplegias are a group of rare disorders that are characterized by great clinical and genetic heterogeneity. ...Spastic paraplegia-4 remains the most frequent locus, and is usually associated with a pure phenotype. ...
The hereditary spastic paraplegias are a group of rare disorders that are characterized by great clinical and genetic heteroge …
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Fang SY, Chou YT, Hsu KC, Hsu SL, Yu KW, Tsai YS, Liao YC, Tsai PC, Lee YC. Fang SY, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):353-362. doi: 10.1002/acn3.51724. Epub 2023 Jan 6. Ann Clin Transl Neurol. 2023. PMID: 36607129 Free PMC article. Review.
OBJECTIVE: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). ...The two mutations, c.316G>A and c.316G>C, are located in the 3' end of NIPA1 exon 3 near the exon-i …
OBJECTIVE: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic
Bile acid analysis in human disorders of bile acid biosynthesis.
Vaz FM, Ferdinandusse S. Vaz FM, et al. Mol Aspects Med. 2017 Aug;56:10-24. doi: 10.1016/j.mam.2017.03.003. Epub 2017 Mar 22. Mol Aspects Med. 2017. PMID: 28322867 Review.
Bile acid biosynthesis is a complex process distributed across many cellular organelles and requires at least 17 enzymes in addition to different metabolite transport proteins to synthesize the two primary bile acids, cholic acid and chenodeoxycholic acid. Disorders of bil …
Bile acid biosynthesis is a complex process distributed across many cellular organelles and requires at least 17 enzymes in addition …
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. Proukakis C, et al. J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. J Neurol Sci. 2011. PMID: 21546041 Review.
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic paraparesis. ...The total number of patients with SPAST mutations was 27, as three of the previously known mutations were present in more th …
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic
Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
Wang K, Zhao G. Wang K, et al. J Neurol Sci. 2015 Oct 15;357(1-2):282-4. doi: 10.1016/j.jns.2015.07.003. Epub 2015 Jul 3. J Neurol Sci. 2015. PMID: 26165777 Review.
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders. ...Here we reported a Chinese family with HSP caused by deletion of exons 8-17 of the SPAST gene and reviewed the clinical phenotype
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders.
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC, Monnakgotla N, Nel M, Heckmann JM. Mahungu AC, et al. Orphanet J Rare Dis. 2022 Mar 24;17(1):133. doi: 10.1186/s13023-022-02280-2. Orphanet J Rare Dis. 2022. PMID: 35331287 Free PMC article. Review.
We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Charcot-Marie-Tooth disease (CMT)), hereditary spastic paraplegias (HSP) and spinal muscular atrophy (SMA) in Africans. ...If African patients with rare n …
We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Charcot-Marie-Tooth disease …
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM. Racis L, et al. Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9. Eur J Paediatr Neurol. 2014. PMID: 24144828 Review.
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. AIM: We studied a 17-year-old boy who had features of IAHSP. We also reviewed the cur …
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor ne …
The Crossroads of Synaptic Growth Signaling, Membrane Traffic and Neurological Disease: Insights from Drosophila.
Deshpande M, Rodal AA. Deshpande M, et al. Traffic. 2016 Feb;17(2):87-101. doi: 10.1111/tra.12345. Epub 2015 Dec 9. Traffic. 2016. PMID: 26538429 Free article. Review.
These membrane trafficking and signaling pathways have been implicated in human motor neuron diseases including amyotrophic lateral sclerosis and hereditary spastic paraplegia, highlighting their importance for neuronal health and survival....
These membrane trafficking and signaling pathways have been implicated in human motor neuron diseases including amyotrophic lateral sclerosi …
16 results