Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Nardocci, N.
Right arrow Articles by Bugiani, O.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Nardocci, N.
Right arrow Articles by Bugiani, O.
Neurology 1999;52:1472
© 1999 American Academy of Neurology
Articles

Infantile neuroaxonal dystrophy

Clinical spectrum and diagnostic criteria

N. Nardocci, MD, G. Zorzi, MD, L. Farina, MD, S. Binelli, MD, W. Scaioli, MD, C. Ciano, MD, L. Verga, VD, L. Angelini, MD, M. Savoiardo, MD and O. Bugiani, MD

From the Department of Child Neurology (Drs. Nardocci, Angelini, and Zorzi), Neuroradiology (Drs. Farina and Savoiardo), Neurophysiology and Clinical Epileptology (Drs. Binelli, Ciano, and Scaioli), and Neuropathology (Drs. Verga and Bugiani), National Neurological Institute "Carlo Besta," Milan, Italy.

Address correspondence and reprint requests to Dr. Nardo Nardocci, Department of Child Neurology, National Neurological Institute "Carlo Besta," Via Celoria 11, 20133 Milan, Italy.

OBJECTIVE: To present clinical, neurophysiologic, and neuroradiologic findings in 13 patients with infantile neuroaxonal dystrophy (INAD), focusing on aspects that assist early diagnosis.

BACKGROUND: Clinicopathologic diagnostic criteria for INAD were delineated by Aicardi and Castelein in 1979, but atypical cases are reported frequently and little is known of the diagnostic utility of MRI.

METHODS: The authors reviewed the clinical, neurophysiologic, and MRI findings of 13 patients who met the diagnostic criteria for INAD.

RESULTS: Symptoms onset was between 6 months and 2 years of age. In nine patients the clinical course was typical, with rapid motor and mental deterioration; in four patients progression was slower and the clinical picture was different. Electromyographic (EMG) signs of chronic denervation, fast rhythms on EEG and abnormal visual evoked potentials were observed in all patients during the disease course. Cerebellar atrophy with signal hyperintensity in the cerebellar cortex on T2-weighted images were the most characteristic MRI findings; hypointensity in the pallida and substantia nigra was also observed in two patients. {alpha}-N-acetyl-galactosaminidase activity on leukocytes was normal in the 10 patients tested.

CONCLUSIONS: EMG and MRI abnormalities are the earliest and most suggestive signs of INAD, which has a clinical and radiologic spectrum that is broader than reported previously.




This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
A Gregory, B J Polster, and S J Hayflick
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
J. Med. Genet., February 1, 2009; 46(2): 73 - 80.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. Gregory, S. K. Westaway, I. E. Holm, P. T. Kotzbauer, P. Hogarth, S. Sonek, J. C. Coryell, T. M. Nguyen, N. Nardocci, G. Zorzi, et al.
Neurodegeneration associated with genetic defects in phospholipase A2
Neurology, October 28, 2008; 71(18): 1402 - 1409.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. A. Kurian, N. V. Morgan, L. MacPherson, K. Foster, D. Peake, R. Gupta, S. G. Philip, C. Hendriksz, J.E.V. Morton, H. M. Kingston, et al.
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
Neurology, April 29, 2008; 70(18): 1623 - 1629.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
K. Shinzawa, H. Sumi, M. Ikawa, Y. Matsuoka, M. Okabe, S. Sakoda, and Y. Tsujimoto
Neuroaxonal Dystrophy Caused by Group VIA Phospholipase A2 Deficiency in Mice: A Model of Human Neurodegenerative Disease
J. Neurosci., February 27, 2008; 28(9): 2212 - 2220.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
I. Malik, J. Turk, D. J. Mancuso, L. Montier, M. Wohltmann, D. F. Wozniak, R. E. Schmidt, R. W. Gross, and P. T. Kotzbauer
Disrupted Membrane Homeostasis and Accumulation of Ubiquitinated Proteins in a Mouse Model of Infantile Neuroaxonal Dystrophy Caused by PLA2G6 Mutations
Am. J. Pathol., February 1, 2008; 172(2): 406 - 416.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
K. Hortnagel, N. Nardocci, G. Zorzi, B. Garavaglia, E. Botz, T. Meitinger, and T. Klopstock
Infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration: Locus heterogeneity
Neurology, September 14, 2004; 63(5): 922 - 924.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Neuroradiol.Home page
R. N. Sener
Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR Am. J. Neuroradiol., August 1, 2004; 25(7): 1269 - 1273.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
F. Umehara, K. Matsumuro, Y. Kurono, K. Arimura, M. Osame, and T. Kanzaki
Neurologic manifestations of Kanzaki disease
Neurology, May 11, 2004; 62(9): 1604 - 1606.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1999 by AAN Enterprises, Inc.