Neuroacanthocytosis - the variability of presenting symptoms in two siblings
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.1999.tb00404.x/fullpdf
Reference11 articles.
1. A new hereditary acanthocytosis syndrome;Estes;Am J Med,1967
2. Hereditary neurological disease with acanthocytosis;Levine;Arch Neurol,1968
3. Neuroacan-thocytosis. A clinical, haematological and pathological study of 19 cases;Hardie;Brain,1991
4. Chorea-acanthocytosis: genetic linkage to chromosome 9q21;Rubio;Am J Hum Genet,1997
5. The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia;Kartsounis;Arch Neurol,1996
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2. Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes;JAMA Neurology;2018-12-01
3. Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review;Frontiers in Aging Neuroscience;2017-04-12
4. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343delVPS13Agene mutation;Epilepsia;2016-01-27
5. Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis;Movement Disorders Clinical Practice;2014-12-06
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