Literature DB >> 14984912

Chronic axonal neuropathy with triosephosphate isomerase deficiency.

Jo M Wilmshurst1, Grahame A Wise, John D Pollard, Robert A Ouvrier.   

Abstract

A patient with triosephosphate isomerase deficiency resulting from compound heterozygote mutation is described. Chronic axonal neuropathy was identified on clinical and neurophysiologic grounds and confirmed by sural nerve biopsy. This report describes the first biopsy-proven case confirming that peripheral neuropathy can occur with triosephosphate isomerase deficiency.

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Year:  2004        PMID： 14984912     DOI： 10.1016/S0887-8994(03)00423-5

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  3 in total

1.  Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors:  Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-18       Impact factor: 4.982

2.  Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.

Authors:  Bartholomew P Roland; Kristen R Richards; Stacy L Hrizo; Samantha Eicher; Zackery J Barile; Tien-Chien Chang; Grace Savon; Paola Bianchi; Elisa Fermo; Bianca Maria Ricerca; Luca Tortorolo; Jerry Vockley; Andrew P VanDemark; Michael J Palladino
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-05-07       Impact factor: 5.187

3.  Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics.

Authors:  Bartholomew P Roland; Alison M Zeccola; Samantha B Larsen; Christopher G Amrich; Aaron D Talsma; Kimberly A Stuchul; Annie Heroux; Edwin S Levitan; Andrew P VanDemark; Michael J Palladino
Journal:  PLoS Genet       Date:  2016-03-31       Impact factor: 5.917
  3 in total

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