Literature DB >> 12760414

Current insights into familial spastic paraparesis: new advances in an old disease.

Daniela Fortini1, Federica Cricchi, Roberto Di Fabio, Maria Damiano, Giovanna Comanducci, Laura Benedetti, Manuela Valoppi, Gaetano S Grieco, Ottavio D'Eugenio, Andrea Celato, Filippo Santorelli, Carlo Casali, Giuseppe A Amabile, Francesco Pierelli.   

Abstract

Hereditary spastic paraparesis (HSP) comprises a clinically and genetically heterogeneous group of disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. The past few years have witnessed an exponential increase in knowledge of this disease and we can now list 19 loci mapped on the human genome and eight genes cloned. However, this wider knowledge of the molecular basis of HSP has had limited impact on clinical practice: the use of antispastic drugs and regular physiotherapy still remain crucial in the therapeutic management of patients. Nonetheless, the identification of new genes mutated in HSP furthers comprehension of the pathomechanisms involved and helps in genetic counseling, especially of asymptomatic individuals who request molecular analyses.

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Year:  2003        PMID: 12760414

Source DB:  PubMed          Journal:  Funct Neurol        ISSN: 0393-5264


  3 in total

1.  Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

Authors:  Leslie A Rudzinski; Rita M Fletcher; Dennis W Dickson; Richard Crook; Michael L Hutton; Jennifer Adamson; Neill R Graff-Radford
Journal:  Alzheimer Dis Assoc Disord       Date:  2008 Jul-Sep       Impact factor: 2.703

2.  A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Authors:  Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
Journal:  Hum Genet       Date:  2007-06-28       Impact factor: 4.132

3.  Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs).

Authors:  Lorraine H De Souza; Andrew O Frank
Journal:  Disabil Rehabil       Date:  2015-12-30       Impact factor: 3.033

  3 in total

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