Literature DB >> 6249060

Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia.

S Opjordsmoen, R Nyberg-Hansen.   

Abstract

The present paper reports a family settled in the northern part of Norway, with a hereditary neurological disorder consisting clinically of spastic paraplegia associated with neurogenic bladder disturbances and syndactylia. Nine out of 22 members in three generations exhibit these clinical features. The bladder disturbances, being incomplete supranuclear bladder paresis (uninhibited neurogenic bladder), were the main complaint and occurred at an early stage of the disease. The family probably represents an unusual form of hereditary spastic paraplegia (HSP). The mode of inheritance is considered to be autosomal dominant.

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Year:  1980        PMID: 6249060     DOI: 10.1111/j.1600-0404.1980.tb02993.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  10 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

Review 2.  Gap junctions couple astrocytes and oligodendrocytes.

Authors:  Jennifer L Orthmann-Murphy; Charles K Abrams; Steven S Scherer
Journal:  J Mol Neurosci       Date:  2008-05       Impact factor: 3.444

Review 3.  Pure hereditary spastic paraplegia.

Authors:  E Reid
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

Review 4.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

5.  Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Authors:  William A Paznekas; Simeon A Boyadjiev; Robert E Shapiro; Otto Daniels; Bernd Wollnik; Catherine E Keegan; Jeffrey W Innis; Mary Beth Dinulos; Cathy Christian; Mark C Hannibal; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2002-11-27       Impact factor: 11.025

6.  Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.

Authors:  J K Fink; C T Wu; S M Jones; G B Sharp; B M Lange; A Lesicki; T Reinglass; T Varvil; B Otterud; M Leppert
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.

Authors:  J S Fitzsimmons; P R Guilbert
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

8.  Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.

Authors:  Xueqing Li; Xueshan Xiao; Shiqiang Li; Jiamin Ouyang; Wenmin Sun; Xing Liu; Qingjiong Zhang
Journal:  Mol Vis       Date:  2021-05-13       Impact factor: 2.367

9.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04

10.  Epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia.

Authors:  Mohammad Barzegar; Mohammad Sayadnasiri; Aidin Tabrizi
Journal:  Iran J Child Neurol       Date:  2012
  10 in total

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