Literature DB >> 24154795

An under-recognised cause of spastic paraparesis in middle-aged women.

D Bargiela1, G Eglon, R Horvath, P F Chinnery.   

Abstract

Having excluded common structural, inflammatory and vascular causes of a spastic paraparesis, the diagnostic yield of further clinical investigations is low. Here, we show that testing for rare metabolic and genetic causes can have important implications for both the patient and their family.

Entities:  

Keywords:  Metabolic Disease; Neurogenetics

Mesh：

Substances：

Year:  2013        PMID： 24154795      PMCID： PMC4040405          DOI： 10.1136/practneurol-2013-000662

Source DB:  PubMed          Journal:  Pract Neurol        ISSN： 1474-7758


  2 in total

Review 1.  Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.

Authors:  Parastoo Jangouk; Kathleen M Zackowski; Sakkubai Naidu; Gerald V Raymond
Journal:  Mol Genet Metab       Date:  2011-11-10       Impact factor: 4.797

2.  Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Authors:  Jone López-Erauskin; Stéphane Fourcade; Jorge Galino; Montserrat Ruiz; Agatha Schlüter; Alba Naudi; Mariona Jove; Manuel Portero-Otin; Reinald Pamplona; Isidre Ferrer; Aurora Pujol
Journal:  Ann Neurol       Date:  2011-07       Impact factor: 10.422
  2 in total
  2 in total

1.  The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.

Authors:  Salil Patel; Nicholas Gutowski
Journal:  BMJ Case Rep       Date:  2015-05-12

2.  Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Authors:  Tongxia Zhang; Chuanzhu Yan; Yiming Liu; Lili Cao; Kunqian Ji; Duoling Li; Lingyi Chi; Yuying Zhao
Journal:  Neuropsychiatr Dis Treat       Date:  2021-05-12       Impact factor: 2.570
  2 in total

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