Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies.
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.
Ravishankar
S
S
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Goel
Gaurav
G
Rautenstrauss
Chandrajit Prasad Bernd
CP
Nalini
Atchayaram
A
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001369:Axons / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics; D005192:Family Health; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male; D046529:Microscopy, Electron, Transmission; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D013788:Thalamus / Q000378:metabolism / Q000473:pathology
D003598:Cytoskeletal Proteins; C416508:GAN protein, human; D001224:Aspartic Acid; C000179:N-acetylaspartate