Neuroacanthocytosis Syndromes A Current Overview

1 Advances in Neuroacanthocytosis 4

2 Neuroacanthocytosis in Japan 5

3 Levine-Critchley Syndrome 5

4 Subsequent Neuroacanthocytosis Reports 9

5 Chorea-Acanthocytosis - Recent Developments 10

5.1 Molecular Studies 10

5.2 Clinical Features 10

6 Inheritance Patterns 11

7 Treatment of Neuroacanthocytosis Syndromes 13

7.1 Pharmacological Therapy 13

7.2 Neurosurgery 13

7.3 Other Therapeutic Issues 13

8 Conclusions 14

References 14

Abstract Neuroacanthocytosis syndromes are characterized by the presence of "thorny" red blood cells and neurodegeneration of the basal ganglia, along with peripheral neuromuscular findings, seizures, and a variety of neuropsychiatry features. In recent years significant progress has been made in understanding the molecular pathophysiology of these disorders; cases are now identified as autosomal recessive chorea-acanthocytosis, X-linked McLeod syndrome, or more rarely, pantothenase kinase-associated neurodegeneration or Huntington's disease-like 2. Molecular analysis of classic reports of neuroacanthocytosis will clarify nomenclature and improve understanding of genotype-phenotype correlations. In addition, there are issues of atypical inheritance patterns which remain to be elucidated. A relatively high incidence of chorea-acanthocytosis in Japan may indicate a genetic founder effect, and has led to significant developments from Japanese researchers.

R.H. Walker

Departments of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY and

Mount Sinai School of Medicine, New York, NY, USA

[email protected]

R.H. Walker et al. (eds.), Neuroacanthocytosis Syndromes II. © Springer-Verlag Berlin Heidelberg 2008

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