Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies.

Abstract:

:Giant axonal neuropathy (GAN) is a disorder that affects both the peripheral and central nervous system with clinical and genetic heterogeneity. We describe the spectrum of magnetic resonance imaging (MRI), MR-spectroscopy (MRS), and diffusion changes in two siblings from India. In addition to the described MRI findings two unreported findings, hyperintensity signals of both the globus pallidus on T1-weighted images and involvement of bilateral thalamus, were observed. MRS showed elevated choline peaks and reduced N-acetylaspartate peaks as well as presence of lactate peaks. Diffusion weighted images showed restricted diffusion.

journal_name

Neurol India

journal_title

Neurology India

authors

Ravishankar S,Goel G,Rautenstrauss CP,Nalini A

doi

10.4103/0028-3886.51290

subject

Has Abstract

pub_date

2009-03-01 00:00:00

pages

181-4

issue

2

eissn

0028-3886

issn

1998-4022

pii

ni_2009_57_2_181_51290

journal_volume

57

pub_type

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