PMID- 11048747
OWN - NLM
STAT- MEDLINE
DCOM- 20010215
LR  - 20051116
IS  - 0722-5091 (Print)
IS  - 0722-5091 (Linking)
VI  - 19
IP  - 5
DP  - 2000 Sep-Oct
TI  - Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of 
      neuronal cytoskeletal elements in childhood?
PG  - 221-9
AB  - 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.
FAU - Mahadevan, A
AU  - Mahadevan A
AD  - Department of Neuropathology, National Institute of Mental Health and 
      Neurosciences, Bangalore, India.
FAU - Santosh, V
AU  - Santosh V
FAU - Gayatri, N
AU  - Gayatri N
FAU - Ratnavalli, E
AU  - Ratnavalli E
FAU - NandaGopal, R
AU  - NandaGopal R
FAU - Vasanth, A
AU  - Vasanth A
FAU - Roy, A K
AU  - Roy AK
FAU - Shankar, S K
AU  - Shankar SK
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Germany
TA  - Clin Neuropathol
JT  - Clinical neuropathology
JID - 8214420
SB  - IM
MH  - Biopsy
MH  - Brain/pathology
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Intermediate Filaments/*pathology
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Microscopy, Electron
MH  - Nerve Fibers, Myelinated/pathology/ultrastructure
MH  - Neuroaxonal Dystrophies/classification/*pathology
MH  - Neurodegenerative Diseases/classification/*pathology
MH  - Organelles/pathology
MH  - Sural Nerve/pathology/ultrastructure
RF  - 43
EDAT- 2000/10/26 11:00
MHDA- 2001/03/03 10:01
CRDT- 2000/10/26 11:00
PHST- 2000/10/26 11:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2000/10/26 11:00 [entrez]
PST - ppublish
SO  - Clin Neuropathol. 2000 Sep-Oct;19(5):221-9.