Literature DB >> 3981172

Cerebellar degeneration in dominantly inherited spastic paraplegia.

C L Scholtz, M Swash.   

Abstract

The clinical features of five affected members in three generations of a family with dominantly inherited Strumpell's spastic paraplegia are described, together with the pathological findings in two cases. The late presentation and slow progression of the disease encompass features of the types I and II of other authors illustrating the heterogeneous expression of the disorder. Cerebellar involvement was evident clinically and pathologically.

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Year:  1985        PMID: 3981172      PMCID: PMC1028215          DOI: 10.1136/jnnp.48.2.145

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  8 in total

1.  Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

Authors:  G A SCHWARZ; C N LIU
Journal:  AMA Arch Neurol Psychiatry       Date:  1956-02

2.  Hereditary (familial) spastic paraplegia.

Authors:  G A SCHWARZ
Journal:  AMA Arch Neurol Psychiatry       Date:  1952-11

3.  Hereditary spastic paraplegia in Western Norway.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  Strümpell's familial spastic paraplegia: genetics and neuropathology.

Authors:  W M Behan; M Maia
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-01       Impact factor: 10.154

5.  Classification of the hereditary ataxias and paraplegias.

Authors:  A E Harding
Journal:  Lancet       Date:  1983-05-21       Impact factor: 79.321

6.  Strumpell's pure familial spastic paraplegia: case study and review of the literature.

Authors:  G L Holmes; B A Shaywitz
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-10       Impact factor: 10.154

7.  Hereditary spastic paraplegia and hereditary ataxia: a family demonstrating a variety of phenotypic manifestations.

Authors:  W M LANDAU; J J GITT
Journal:  AMA Arch Neurol Psychiatry       Date:  1951-09

8.  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-10       Impact factor: 10.154

  8 in total
  1 in total

1.  Terminal uridyltransferase 7 regulates TLR4-triggered inflammation by controlling Regnase-1 mRNA uridylation and degradation.

Authors:  Chia-Ching Lin; Yi-Ru Shen; Chi-Chih Chang; Xiang-Yi Guo; Yun-Yun Young; Ting-Yu Lai; I-Shing Yu; Chih-Yuan Lee; Tsung-Hsien Chuang; Hsin-Yue Tsai; Li-Chung Hsu
Journal:  Nat Commun       Date:  2021-06-29       Impact factor: 14.919

  1 in total

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