Literature DB >> 16469273

Hereditary spastic paraplegia.

John K Fink1.   

Abstract

The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. HSP is classified according to the mode of inheritance, the HSP locus when known, and whether the spastic paraplegia syndrome occurs alone or is accompanied by additional neurologic or systemic abnormalities. Analysis of 11 recently discovered HSP genes provides insight into HSP pathogenesis. Hereditary spastic paraplegia is a clinical diagnosis for which laboratory confirmation is sometimes possible, and careful exclusion of alternate and co-existing disorders is an important element in HSP diagnosis. Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. Prenatal genetic testing in HSP is possible for some individuals with the increasing availability of HSP gene analysis.

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Year:  2006        PMID: 16469273     DOI: 10.1007/s11910-996-0011-1

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  129 in total

1.  The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

Authors:  Evan Reid; James Connell; Thomas L Edwards; Simon Duley; Stephanie E Brown; Christopher M Sanderson
Journal:  Hum Mol Genet       Date:  2004-11-10       Impact factor: 6.150

2.  Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Authors:  Alexandra Dürr; Agnès Camuzat; Emilie Colin; Chantal Tallaksen; Didier Hannequin; Paula Coutinho; Bertrand Fontaine; Annick Rossi; Roger Gil; Christophe Rousselle; Merle Ruberg; Giovanni Stevanin; Alexis Brice
Journal:  Arch Neurol       Date:  2004-12

3.  Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia.

Authors:  L Pedersen; W Trojaborg
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1981-10

Review 4.  Sensory neuropathy in hereditary spastic paraplegia.

Authors:  W Schady; C M Smith
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-06       Impact factor: 10.154

5.  Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Authors:  Christos Proukakis; Harold Cross; Heema Patel; Michael A Patton; Alan Valentine; Andrew H Crosby
Journal:  J Neurol       Date:  2004-09       Impact factor: 4.849

6.  Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

Authors:  A Hentati; M A Pericak-Vance; F Lennon; B Wasserman; F Hentati; T Juneja; M H Angrist; W Y Hung; R M Boustany; S Bohlega
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

7.  Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Authors:  Enza Maria Valente; Francesco Brancati; Viviana Caputo; Enrico Bertini; Clarice Patrono; Danilo Costanti; Bruno Dallapiccola
Journal:  Ann Neurol       Date:  2002-06       Impact factor: 10.422

8.  Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy.

Authors:  A Uncini; M Treviso; M Basciani; D Gambi
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1987-02

9.  Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

Authors:  Jørgen E Nielsen; Pernille Koefoed; Susanne Kjaergaard; Lisa Neerup Jensen; Anne Nørremølle; Lis Hasholt
Journal:  Prenat Diagn       Date:  2004-05       Impact factor: 3.050

10.  Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

Authors:  Luigia Atorino; Laura Silvestri; Mirko Koppen; Laura Cassina; Andrea Ballabio; Roberto Marconi; Thomas Langer; Giorgio Casari
Journal:  J Cell Biol       Date:  2003-11-17       Impact factor: 10.539

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  99 in total

1.  TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Authors:  Maria Martinez-Lage; Laura Molina-Porcel; Dana Falcone; Leo McCluskey; Virginia M-Y Lee; Vivianna M Van Deerlin; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2012-08       Impact factor: 17.088

2.  Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging.

Authors:  Alexander Unrath; Hans-Peter Müller; Axel Riecker; Albert C Ludolph; Anne-Dorte Sperfeld; Jan Kassubek
Journal:  Hum Brain Mapp       Date:  2010-11       Impact factor: 5.038

3.  Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.

Authors:  Xinnan Wang; W Robert Shaw; Hilda T H Tsang; Evan Reid; Cahir J O'Kane
Journal:  Nat Neurosci       Date:  2007-01-14       Impact factor: 24.884

4.  NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Authors:  Stephan Klebe; Arnaud Lacour; Alexandra Durr; Tanya Stojkovic; Christel Depienne; Sylvie Forlani; Sandrine Poea-Guyon; Isabelle Vuillaume; Bernard Sablonniere; Patrick Vermersch; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2007-01-05       Impact factor: 2.660

Review 5.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

6.  Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.

Authors:  Dongling Dai; Philippa B Mills; Emma Footitt; Paul Gissen; Patricia McClean; Jens Stahlschmidt; Isabelle Coupry; Julie Lavie; Fanny Mochel; Cyril Goizet; Tatsuki Mizuochi; Akihiko Kimura; Hiroshi Nittono; Karin Schwarz; Peter J Crick; Yuqin Wang; William J Griffiths; Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2014-09       Impact factor: 4.982

7.  A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Authors:  Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Stephan Klebe; Hamid Azzedine; Silvia Di Giandomenico; Anne Boland-Augé; Filippo M Santorelli; Alexandra Durr; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin
Journal:  Hum Genet       Date:  2007-02-02       Impact factor: 4.132

Review 8.  An update on inherited ataxias.

Authors:  Tanja Schmitz-Hübsch; Thomas Klockgether
Journal:  Curr Neurol Neurosci Rep       Date:  2008-07       Impact factor: 5.081

9.  Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Authors:  Rebecca Schüle; Elisabeth Brandt; Kathrin N Karle; Maria Tsaousidou; Stephan Klebe; Sven Klimpe; Michaela Auer-Grumbach; Andrew H Crosby; Christian A Hübner; Ludger Schöls; Thomas Deufel; Christian Beetz
Journal:  Neurogenetics       Date:  2008-10-15       Impact factor: 2.660

10.  Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

Authors:  Michael C Hanna; Craig Blackstone
Journal:  Neurogenetics       Date:  2009-01-31       Impact factor: 2.660

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