Literature DB >> 12925358

The hereditary spastic paraplegias: nine genes and counting.

John K Fink1.   

Abstract

The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. There have been great strides in our knowledge of this group of disabling disorders; 20 HSP loci and 9 HSP genes have been discovered. Insights into the molecular causes of HSPs are beginning to emerge. This review summarizes these advances in HSPs' genetics.

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Year:  2003        PMID： 12925358     DOI： 10.1001/archneur.60.8.1045

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


  28 in total

Review 1.  Inherited neuropathies: clinical overview and update.

Authors:  Christopher J Klein; Xiaohui Duan; Michael E Shy
Journal:  Muscle Nerve       Date:  2013-06-26       Impact factor: 3.217

2.  Complicated hereditary spastic paraplegia with thin corpus callosum: variation of phenotypic expression over time.

Authors:  Anne-Dörte Sperfeld; Jan Kassubek; Andrew H Crosby; Beate Winner; Albert C Ludolph; Ingo Uttner; C Oliver Hanemann
Journal:  J Neurol       Date:  2004-10       Impact factor: 4.849

3.  Novel mutation in the SPAST gene in a patient with spastic paraparesis.

Authors:  M D I Vergouwen; E A Sistermans; F Baas; J H Koelman; M de Visser
Journal:  J Neurol       Date:  2007-11-30       Impact factor: 4.849

4.  Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Authors:  Lúcia Inês Macedo-Souza; Fernando Kok; Silvana Santos; Luciana Licinio; Karina Lezirovitz; Rafaella M P Nascimento; Clarissa Bueno; Marcília Martyn; Emília K E A Leão; Mayana Zatz
Journal:  Neurogenetics       Date:  2008-05-08       Impact factor: 2.660

5.  Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

Authors:  J Haberlová; K G Claeys; J Zámecník; P De Jonghe; P Seeman
Journal:  J Neurol       Date:  2008-04-30       Impact factor: 4.849

6.  Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Authors:  Hiroyuki Ishiura; Yuji Takahashi; Toshihiro Hayashi; Kayoko Saito; Hirokazu Furuya; Mitsunori Watanabe; Miho Murata; Mikiya Suzuki; Akira Sugiura; Setsu Sawai; Kazumoto Shibuya; Naohisa Ueda; Yaeko Ichikawa; Ichiro Kanazawa; Jun Goto; Shoji Tsuji
Journal:  J Hum Genet       Date:  2014-01-23       Impact factor: 3.172

7.  Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.

Authors:  Joanna M Solowska; James Y Garbern; Peter W Baas
Journal:  Hum Mol Genet       Date:  2010-04-29       Impact factor: 6.150

8.  A Peruvian family with a high burden of HTLV-1-associated myelopathy/tropical spastic paraparesis.

Authors:  Carolina Alvarez; Kristien Verdonck; Martín Tipismana; Eduardo Gotuzzo
Journal:  BMJ Case Rep       Date:  2015-09-21

Review 9.  Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors:  F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

10.  Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Authors:  Moneef Shoukier; Juergen Neesen; Simone M Sauter; Loukas Argyriou; Nadine Doerwald; D V Krishna Pantakani; Ashraf U Mannan
Journal:  Eur J Hum Genet       Date:  2008-08-13       Impact factor: 4.246
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