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Journal Articles

in Ataxia
 1-20 of 127 Articles
JAMA Neurology | 
Original Contribution |  April 29, 2013 ONLINE FIRST
New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32
Carmen Serrano-Munuera, MD; Marc Corral-Juan, BSc; Giovanni Stevanin, PhD; et al.
JAMA Neurol. 2013;():1-8. doi:10.1001/jamaneurol.2013.2311.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Observation |  April 29, 2013 ONLINE FIRST
Clinical Application of Whole-Exome Sequencing:  A Novel Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Sequence Variation in a Child With Ataxia
Wendy K. M. Liew, MBChB, MRCPCH; Tawfeg Ben-Omran, MD, FRCPC, FCCMG; Basil T. Darras, MD; et al.
JAMA Neurol. 2013;():1-4. doi:10.1001/jamaneurol.2013.247.
JAMA Neurology | 
Original Contribution |  April 22, 2013 ONLINE FIRST
Hereditary Ataxia and Spastic Paraplegia in Portugal:  A Population-Based Prevalence Study
Paula Coutinho, MD, PhD; Luis Ruano, MD, MPH; José L. Loureiro, MD, PhD; et al.
JAMA Neurol. 2013;():1-10. doi:10.1001/jamaneurol.2013.1707.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Observation |  April 01, 2013
Patient With Homer-3 Antibodies and Cerebellitis
Romana Höftberger, MD; Lidia Sabater, PhD; Angel Ortega, MD; et al.
JAMA Neurol. 2013;70(4):506-509. doi:10.1001/jamaneurol.2013.1955.
JAMA Ophthalmology | 
Research Letters |  April 01, 2013
Novel Maculopathy in Patients With Spinocerebellar Ataxia Type 1 Autofluorescence Findings and Functional Characteristics
Veronika Vaclavik, MD; François-Xavier Borruat, MD; Aude Ambresin, MD; et al.
JAMA Ophthalmol. 2013;131(4):536-538. doi:10.1001/jamaophthalmol.2013.1127.
JAMA Neurology | 
Original Contribution |  February 01, 2013
Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation:  12-Year Follow-up of a Large Portuguese Family
José Barros, MD; Joana Damásio, MD; Assunção Tuna, MD, Msc; et al.
JAMA Neurol. 2013;70(2):235-240. doi:10.1001/jamaneurol.2013.591.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Correspondence |  December 01, 2012
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing
Gabriella Silvestri, MD, PhD; Marcella Masciullo, MD; Filippo M. Santorelli, MD
Arch Neurol. 2012;69(12):1661-1662. doi:10.1001/2013.jamaneurol.70.
JAMA Neurology | 
Correspondence |  December 01, 2012
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply
Angela Pyle, PhD; Rita Horvath, MD; Patrick F. Chinnery, PhD, FRCP, FMedSci
Arch Neurol. 2012;69(12):1661-1662. doi:10.1001/2013.jamaneurol.389.
JAMA Neurology | 
Correspondence |  November 01, 2012
Spinocerebellar Ataxia Types 2 and 10: More Than a Coincidental Association?—Reply
Sachin S. Kapur, MD, MS; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2771.
JAMA Neurology | 
Clinical Pathologic Conference |  October 01, 2012
Slowly Progressive Ataxia, Neuropathy, and Oculomotor Dysfunction
Justin T. Jordan, MD; Gincy Samuel, MD; Steven Vernino, MD, PhD; et al.
Arch Neurol. 2012;69(10):1366-1371. doi:10.1001/archneurol.2012.2356.
JAMA Neurology | 
Observation |  October 01, 2012
Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing
Angela Pyle, PhD; Helen Griffin, PhD; Patrick Yu-Wai-Man, PhD, MRCOphth; et al.
Arch Neurol. 2012;69(10):1351-1354. doi:10.1001/archneurol.2012.1472.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Observation |  September 01, 2012
Two in One:  Report of a Patient With Spinocerebellar Ataxia Types 2 and 10
Sachin S. Kapur, MD; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(9):1200-1203. doi:10.1001/archneurol.2011.3044.
JAMA Neurology | 
Observation |  August 01, 2012
Anti–Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia
Marisol Mirabelli-Badenier, MD; Giovanni Morana, MD; Francesca Pinto, MD; et al.
Arch Neurol. 2012;69(8):1064-1066. doi:10.1001/archneurol.2012.234.
JAMA Neurology | 
Clinical Pathologic Conference |  July 01, 2012
Ataxia and Weakness in a Young Woman
Shin Chien Beh, MD; Sharon Nations, MD; Juan M. Pascual, MD, PhD; et al.
Arch Neurol. 2012;69(7):924-927. doi:10.1001/archneurol.2012.1207.
JAMA Neurology | 
Observation |  July 01, 2012
Exonic Deletions of FXN and Early-Onset Friedreich Ataxia
Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; et al.
Arch Neurol. 2012;69(7):912-916. doi:10.1001/archneurol.2011.834.
JAMA Neurology | 
Original Contribution |  June 01, 2012
Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
Sandra Martins, PhD; Bing-Wen Soong, MD, PhD; Virginia C. N. Wong, MD, PhD; et al.
Arch Neurol. 2012;69(6):746-751. doi:10.1001/archneurol.2011.2504.
JAMA | 
JAMA Clinical Challenge |  May 23, 2012 FREE
Progressive Confusion, Memory Loss, and Gait Ataxia in an Adult
Brian J. Dlouhy, MD; Jeremy D. W. Greenlee, MD
JAMA. 2012;307(20):2195-2196. doi:10.1001/jama.2012.3447.
JAMA Neurology | 
Observation |  April 01, 2012 FREE
Use of Acetazolamide in Sulfonamide-Allergic Patients With Neurologic Channelopathies
Daniel Platt, MD; Robert C. Griggs, MD
Arch Neurol. 2012;69(4):527-529. doi:10.1001/archneurol.2011.2723.
INCLUDES: CME
JAMA Neurology | 
Original Contributions |  April 01, 2012
Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia
Sophie Tezenas du Montcel, MD, PhD; Perrine Charles, MD, PhD; Cyril Goizet, MD, PhD; et al.
Arch Neurol. 2012;69(4):500-508. doi:10.1001/archneurol.2011.2713.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Original Contributions |  December 01, 2011
The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease
Conceição Bettencourt, PhD; Mafalda Raposo, BSc; Nadiya Kazachkova, PhD; et al.
Arch Neurol. 2011;68(12):1580-1583. doi:10.1001/archneurol.2011.636.

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From The JAMA Network
JAMA Neurology
Observation  |  April 29, 2013
Clinical Application of Whole-Exome Sequencing:  A Novel Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Sequence Variation in a Child With Ataxia
Wendy K. M. Liew, MBChB, MRCPCH; Tawfeg Ben-Omran, MD, FRCPC, FCCMG; Basil T. Darras, MD; et al.
JAMA Neurology
Original Contribution  |  April 29, 2013
New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32
Carmen Serrano-Munuera, MD; Marc Corral-Juan, BSc; Giovanni Stevanin, PhD; et al.
JAMA Neurology
Original Contribution  |  April 22, 2013
Hereditary Ataxia and Spastic Paraplegia in Portugal:  A Population-Based Prevalence Study
Paula Coutinho, MD, PhD; Luis Ruano, MD, MPH; José L. Loureiro, MD, PhD; et al.
JAMA Neurology
Observation  |  February 11, 2013
Patient With Homer-3 Antibodies and Cerebellitis
Romana Höftberger, MD; Lidia Sabater, PhD; Angel Ortega, MD; et al.
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