Literature DB >> 33439395

Hereditary spastic paraplegia.

Sireesha Murala1, Elanagan Nagarajan2, Pradeep C Bollu3.   

Abstract

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types. Classification of HSP is based on inheritance pattern, clinical phenotype, and molecular pathophysiological mechanisms. The most common neuropathological sign is the axonal degeneration involving the lateral corticospinal tracts in both the cervical and thoracic spinal cord. The target of this review article is to provide a comprehensive overview of the HSP classification, neuropathology, and differential diagnosis.

Entities:  

Keywords:  Autosomal dominant HSP; Autosomal recessive HSP; Differential diagnosis; Hereditary spastic paraplegia; Treatment; X-linked

Mesh:

Year:  2021        PMID: 33439395     DOI: 10.1007/s10072-020-04981-7

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  7 in total

1.  Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.

Authors:  Mirco Cosottini; Graziella Donatelli; Ivana Ricca; Francesca Bianchi; Daniela Frosini; Vincenzo Montano; Gianmichele Migaleddu; Eleonora Del Prete; Alessandra Tessa; Paolo Cecchi; Claudio D'Amelio; Gabriele Siciliano; Michelangelo Mancuso; Filippo Maria Santorelli
Journal:  Eur Radiol       Date:  2022-05-20       Impact factor: 7.034

2.  Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.

Authors:  Yuzhi Shi; An Wang; Bin Chen; Xingao Wang; Songtao Niu; Wei Li; Shaowu Li; Zaiqiang Zhang
Journal:  Front Neurol       Date:  2022-04-28       Impact factor: 4.086

3.  Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia.

Authors:  Patricia Morejon-Garcia; Boris Keren; Iñigo Marcos-Alcalde; Paulino Gomez-Puertas; Fanny Mochel; Pedro A Lazo
Journal:  Neurol Genet       Date:  2021-09-02

4.  A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province.

Authors:  Tao Shen; Wen Zhang; Li Li; Rong-Xia Zuo; Zi-Jun Wang; Tai Xiao; Kun-Wen Zheng
Journal:  Ann Transl Med       Date:  2022-01

Review 5.  Hereditary Spastic Paraplegia: An Update.

Authors:  Arun Meyyazhagan; Antonio Orlacchio
Journal:  Int J Mol Sci       Date:  2022-02-01       Impact factor: 5.923

Review 6.  The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.

Authors:  Arun Meyyazhagan; Haripriya Kuchi Bhotla; Manikantan Pappuswamy; Antonio Orlacchio
Journal:  Int J Mol Sci       Date:  2022-07-11       Impact factor: 6.208

7.  Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.

Authors:  Chao Zhang; Xiaowei Zhu; Zeyu Zhu; Ruilong Ni; Taotao Liu; Haoran Zheng; Shihua Liu; Li Cao; Ping Zhong; Wotu Tian
Journal:  Front Neurol       Date:  2022-03-07       Impact factor: 4.003

  7 in total

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