Literature DB >> 2044852

'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood.

R E Appleton1, K Farrell, H G Dunn.   

Abstract

Of 23 children with hereditary spastic paraplegia (HSP), spasticity was the only neurological abnormality in eight patients (pure form). Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo-bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the pure form and five years in the complicated form. These forms were distinguished at a mean age of 11 years. Early non-motor developmental delay or rapidly ascending paraparesis, with spread of spasticity to the arms and with involvement of bulbar structures, predicted development of the complicated form. The pure form was inherited in an autosomal dominant manner in five patients. The autosomal recessive form was commonly associated with additional neurological abnormalities and a more rapid rate of progression.

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Year:  1991        PMID: 2044852     DOI: 10.1111/j.1469-8749.1991.tb14881.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  6 in total

Review 1.  Cerebral palsy: not always what it seems.

Authors:  R Gupta; R E Appleton
Journal:  Arch Dis Child       Date:  2001-11       Impact factor: 3.791

2.  VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.

Authors:  Moran Hausman-Kedem; Shay Ben-Shachar; Shay Menascu; Karen Geva; Liora Sagie; Aviva Fattal-Valevski
Journal:  Neurogenetics       Date:  2019-08-16       Impact factor: 2.660

3.  Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.

Authors:  Roshan Koul; Fathiya M Al-Murshedi; Faisal M Al-Azri; Ranjit Mani; Rana A Abdelrahim; Vivek Koul; Amna M Alfutaisi
Journal:  Sultan Qaboos Univ Med J       Date:  2013-06-25

4.  A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Authors:  Alexandros A Polymeris; Alessandra Tessa; Katherine Anagnostopoulou; Anna Rubegni; Daniele Galatolo; Argirios Dinopoulos; Artemis D Gika; Sotiris Youroukos; Eleni Skouteli; Filippo M Santorelli; Roser Pons
Journal:  J Neurol       Date:  2016-06-03       Impact factor: 4.849

5.  Fatty acid synthase cooperates with protrudin to facilitate membrane outgrowth of cellular protrusions.

Authors:  Chuanling Zhang; Jiaqi Lu; Huizhong Su; Jing Yang; Demin Zhou
Journal:  Sci Rep       Date:  2017-04-21       Impact factor: 4.379

6.  Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.

Authors:  Mahesh Kamate; Mayank Detroja
Journal:  Ann Indian Acad Neurol       Date:  2019 Jul-Sep       Impact factor: 1.383

  6 in total

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