Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?
Giant axonal neuropathy (GAN) and infantile neuroaxonal dystrophy (INAD) are two progressive neurodegenerative disorders of childhood that have considerable clinical as well as histological overlap but are believed to be ultrastructurally distinct. The clinicopathological and ultrastructural features of three cases of INAD, two of whom are siblings and one case of GAN are described. The sural nerve biopsies in all four cases were essentially similar on light microscopy revealing giant axons. On electron microscopy, the findings in the case of GAN were typical with dense accumulation of neurofilaments within the giant axons. In the three cases of INAD, too, in addition to accumulation of mitochondria and organelles with vesiculotubular profiles, a similar increase in neurofilaments was evident. We, therefore, believe that these two disorders may represent a spectrum in evolution of intermediate filament pathology with various organelles participating in the temporal evolution of the disease process.
Mahadevan
A
A
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Santosh
V
V
Gayatri
N
N
Ratnavalli
E
E
NandaGopal
R
R
Vasanth
A
A
Roy
A K
AK
Shankar
S K
SK
D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007382:Intermediate Filaments / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000648:ultrastructure; D019150:Neuroaxonal Dystrophies / Q000145:classification / Q000473:pathology*; D019636:Neurodegenerative Diseases / Q000145:classification / Q000473:pathology*; D015388:Organelles / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure