Literature DB >> 14673892

Phenotypic features of Huntington's disease-like 2.

Ruth H Walker1, Joseph Jankovic, Elizabeth O'Hearn, Russell L Margolis.   

Abstract

Huntington's disease-like 2 is an autosomal dominantly inherited disorder due to an expansion of trinucleotide repeats. It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits. Copyright 2003 Movement Disorder Society

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Year:  2003        PMID： 14673892     DOI： 10.1002/mds.10587

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  11 in total

1.  Quantitative Proteomic Analysis Reveals Similarities between Huntington's Disease (HD) and Huntington's Disease-Like 2 (HDL2) Human Brains.

Authors:  Tamara Ratovitski; Raghothama Chaerkady; Kai Kammers; Jacqueline C Stewart; Anialak Zavala; Olga Pletnikova; Juan C Troncoso; Dobrila D Rudnicki; Russell L Margolis; Robert N Cole; Christopher A Ross
Journal:  J Proteome Res       Date:  2016-08-03       Impact factor: 4.466

Review 2.  Diagnosis and treatment of chorea syndromes.

Authors:  Andreas Hermann; Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2015       Impact factor: 5.081

3.  Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Authors:  Amanda Krause; Claire Mitchell; Fahmida Essop; Susan Tager; James Temlett; Giovanni Stevanin; Christopher Ross; Dobrila Rudnicki; Russell Margolis
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2015-06-16       Impact factor: 3.568

Review 4.  Differential diagnosis of chorea.

Authors:  Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

Review 5.  Gene-environment interplay in neurogenesis and neurodegeneration.

Authors:  Tomás Palomo; Trevor Archer; Richard J Beninger; Richard M Kostrzewa
Journal:  Neurotox Res       Date:  2004       Impact factor: 3.911

6.  Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.

Authors:  David G Anderson; Aline Ferreira-Correia; Filipe B Rodrigues; N Ahmad Aziz; Jonathan Carr; Edward J Wild; Russell L Margolis; Amanda Krause
Journal:  Mov Disord Clin Pract       Date:  2019-03-12

Review 7.  Movement Disorders and Hematologic Diseases.

Authors:  Roshni Abee Patel; Deborah A Hall; Sheila Eichenseer; Meagan Bailey
Journal:  Mov Disord Clin Pract       Date:  2020-12-29

Review 8.  Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Authors:  Ruth H Walker
Journal:  J Mov Disord       Date:  2015-05-31

9.  Clinical and molecular research of neuroacanthocytosis.

Authors:  Lihong Zhang; Suping Wang; Jianwen Lin
Journal:  Neural Regen Res       Date:  2013-03-25       Impact factor: 5.135

10.  Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry.

Authors:  David G Anderson; Mark Haagensen; Aline Ferreira-Correia; Ronald Pierson; Jonathan Carr; Amanda Krause; Russell L Margolis
Journal:  Neuroimage Clin       Date:  2019-01-07       Impact factor: 4.881
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