Literature DB >> 21596811

Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.

M Walterfang1, M Fahey, L Abel, M Fietz, A Wood, E Bowman, D Reutens, D Velakoulis.   

Abstract

BACKGROUND AND
PURPOSE: Variable alterations to the structure of the corpus callosum have been described in adults with NPC, a neurometabolic disorder known to result in both white and gray matter pathology. This study sought to examine the structure of the callosum in a group of adult patients with NPC and compared callosal structure with a group of matched controls, and to relate callosal structure with state and trait illness variables.
MATERIALS AND METHODS: Nine adult patients with NPC were matched to control subjects (n = 26) on age and sex. The corpus callosum was segmented from the midsagittal section of T1-weighted images on all subjects, and total area, length, bending angle, and mean thickness were calculated. In addition, 39 regional thickness measures were derived by using a previously published method. All measures were compared between groups, and analyzed alongside symptom measures, biochemical parameters, and ocular-motor measures.
RESULTS: The callosal area and mean thickness were significantly reduced in the patient group, and regional thickness differences were greatest in the genu, posterior body, isthmus, and anterior splenium. Global callosal measures correlated significantly with duration of illness and symptom score, and at trend level with degree of filipin staining. Measures of reflexive saccadic peak velocity and gain, and self-paced saccades, correlated strongly with total callosal area.
CONCLUSIONS: Callosal structure and size reflect both state and trait markers in adult NPC, and they may be useful biomarkers to index both white and gray matter changes that reflect illness severity and progression.

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Mesh:

Year:  2011        PMID: 21596811      PMCID: PMC7966038          DOI: 10.3174/ajnr.A2490

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  44 in total

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3.  Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient.

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4.  Neurodegeneration in Niemann-Pick type C disease mice.

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5.  Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

Authors:  C-C Yang; Y-N Su; P-C Chiou; M J Fietz; C-L Yu; W-L Hwu; M-J Lee
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6.  Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease.

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Review 7.  The adult form of Niemann-Pick disease type C.

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8.  Corpus callosum morphology and relationship to orbitofrontal and lateral ventricular volume in teenagers with first-presentation borderline personality disorder.

Authors:  Mark Walterfang; Andrew M Chanen; Sarah Barton; Amanda G Wood; Sheena Jones; David C Reutens; Jian Chen; Dennis Velakoulis; Patrick D McGorry; Christos Pantelis
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9.  Morphology of the corpus callosum at different stages of schizophrenia: cross-sectional study in first-episode and chronic illness.

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10.  Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

Authors:  L A Abel; M Walterfang; M Fietz; E A Bowman; D Velakoulis
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  22 in total

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3.  Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.

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Review 5.  Miglustat: a review of its use in Niemann-Pick disease type C.

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6.  Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study.

Authors:  M Walterfang; B Patenaude; L A Abel; H Kluenemann; E A Bowman; M C Fahey; P Desmond; W Kelso; D Velakoulis
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7.  Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat.

Authors:  Elizabeth A Bowman; Mark Walterfang; Larry Abel; Patricia Desmond; Michael Fahey; Dennis Velakoulis
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8.  Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

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Review 9.  The neuropsychiatry of inborn errors of metabolism.

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10.  Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C.

Authors:  J Davies-Thompson; I Vavasour; M Scheel; A Rauscher; J J S Barton
Journal:  AJNR Am J Neuroradiol       Date:  2016-03-03       Impact factor: 3.825

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