Literature DB >> 9084927

Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy.

S Mitchell1, S Bundey.   

Abstract

Seven Pakistani families are described with children manifesting a spastic cerebral palsy-like syndrome. One feature common to all affected patients was symmetry of neurological signs. Only one of these families had been offered genetic counselling and fewer than half had undergone clinical investigations. The importance of symmetry of neurological signs is reaffirmed as an indicator of a probable genetic aetiology in children with spasticity. Many families at risk of recurrence are not offered appropriate genetic advice, and some children with potentially diagnosable conditions are given a label of cerebral palsy without investigation of possible underlying inherited disorders.

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Year:  1997        PMID: 9084927     DOI: 10.1111/j.1399-0004.1997.tb02406.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  8 in total

Review 1.  Recurrence risks in mental retardation.

Authors:  Y J Crow; J L Tolmie
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

2.  A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Authors:  S J Mitchell; D P McHale; D A Campbell; N J Lench; R F Mueller; S E Bundey; A F Markham
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

3.  A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.

Authors:  D P McHale; S Mitchell; S Bundey; L Moynihan; D A Campbell; C G Woods; N J Lench; R F Mueller; A F Markham
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 4.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

5.  An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

Authors:  Anna Rajab; Seung-Yun Yoo; Aiman Abdulgalil; Salem Kathiri; Riaz Ahmed; Ganeshwaran H Mochida; Adria Bodell; A James Barkovich; Christopher A Walsh
Journal:  Am J Med Genet A       Date:  2006-07-15       Impact factor: 2.802

6.  Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Authors:  Neil V Morgan; Bryndis Yngvadottir; Mary O'Driscoll; Graeme R Clark; Diana Walsh; Ezequiel Martin; Louise Tee; Evan Reid; Hannah L Titheradge; Eamonn R Maher
Journal:  Brain Commun       Date:  2021-01-28

7.  Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.

Authors:  Clare N Lynex; Ian M Carr; Jack P Leek; Rajgopal Achuthan; Simon Mitchell; Eamonn R Maher; C Geoffrey Woods; David T Bonthon; Alex F Markham
Journal:  BMC Neurol       Date:  2004-11-30       Impact factor: 2.474

8.  Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.

Authors:  Muhammad Imran Naseer; Angham Abdulrahman Abdulkareem; Peter Natesan Pushparaj; Fehmida Bibi; Adeel G Chaudhary
Journal:  Front Genet       Date:  2020-02-21       Impact factor: 4.599

  8 in total

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