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Showing 1 to 12 of 54 entries
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The preclinical stage of spinocerebellar ataxias.

Neurology

Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP.
PMID: 26062625
Neurology. 2015 Jul 07;85(1):96-103. doi: 10.1212/WNL.0000000000001711. Epub 2015 Jun 10.

The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be...

Current and future medical treatment in primary dystonia.

Therapeutic advances in neurological disorders

Delnooz CC, van de Warrenburg BP.
PMID: 22783371
Ther Adv Neurol Disord. 2012 Jul;5(4):221-40. doi: 10.1177/1756285612447261.

Dystonia is a hyperkinetic movement disorder, characterized by involuntary and sustained contractions of opposing muscles causing twisting movements and abnormal postures. It is often a disabling disorder that has a significant impact on physical and psychosocial wellbeing. The medical...

Republished: A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.

Postgraduate medical journal

van Gaalen J, van de Warrenburg BP.
PMID: 22730484
Postgrad Med J. 2012 Jul;88(1041):407-17. doi: 10.1136/postgradmedj-2011-000108rep.

The clinical management of cerebellar ataxia is challenging, mainly because ataxia is a symptom of many neurological diseases. Many types of ataxia disorders are genetic and some are extremely rare. Here, the authors suggest a diagnostic approach to ataxia...

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.

Movement disorders clinical practice

Paap BK, Roeske S, Durr A, Schöls L, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Lehéricy S, Mariotti C, Melegh J, Pandolfo M, Tallaksen CME, Timmann D, Tsuji S, Schulz JB, van de Warrenburg BP, Klockgether T.
PMID: 30363623
Mov Disord Clin Pract. 2016 Feb 11;3(3):230-240. doi: 10.1002/mdc3.12315. eCollection 2016.

BACKGROUND: Hereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies...

The Symptomatic Treatment of Acquired Dystonia: A Systematic Review.

Movement disorders clinical practice

van den Heuvel CNAM, Tijssen MAJ, van de Warrenburg BPC, Delnooz CCS.
PMID: 30363468
Mov Disord Clin Pract. 2016 Aug 03;3(6):548-558. doi: 10.1002/mdc3.12400. eCollection 2016.

BACKGROUND: Acquired dystonia is caused by an acquired or exogenous event. Although the therapeutic armamentarium used in clinical practice is more or less similar to that used for inherited or idiopathic dystonia, formal proof of the efficacy of these...

Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.

Movement disorders : official journal of the Movement Disorder Society

Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Duga S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Kawamura Y, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BPC, Bloem BR, Aasly J, Toft M, Pihlstrøm L, Correia Guedes L, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Hellberg C, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Krüger R, Gasser T, Sharma M, Elbaz A.
PMID: 34997937
Mov Disord. 2022 Jan 08; doi: 10.1002/mds.28902. Epub 2022 Jan 08.

BACKGROUND: Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding.OBJECTIVE: The aim is to examine the...

Cerebello-thalamic activity drives an abnormal motor network into dystonic tremor.

NeuroImage. Clinical

Nieuwhof F, Toni I, Dirkx MF, Gallea C, Vidailhet M, Buijink AWG, van Rootselaar AF, van de Warrenburg BPC, Helmich RC.
PMID: 34929584
Neuroimage Clin. 2021 Dec 16;33:102919. doi: 10.1016/j.nicl.2021.102919. Epub 2021 Dec 16.

Dystonic tremor syndromes are highly burdensome and treatment is often inadequate. This is partly due to poor understanding of the underlying pathophysiology. Several lines of research suggest involvement of the cerebello-thalamo-cortical circuit and the basal ganglia in dystonic tremor...

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Movement disorders : official journal of the Movement Disorder Society

Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L.
PMID: 34713931
Mov Disord. 2021 Oct 29; doi: 10.1002/mds.28844. Epub 2021 Oct 29.

BACKGROUND: Lifestyle could influence the course of hereditary ataxias, but representative data are missing.OBJECTIVE: The objective of this study was to characterize lifestyle in spinocerebellar ataxia type 3 (SCA3) and investigate possible associations with disease parameters.METHODS: In a prospective...

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia.

Cerebellum & ataxias

Mohamed Ibrahim N, Lau YH, Ariffin N, Md Desa SH, Azizan E, Chin LK, Md Rani SA, Yakob Y, Datuk Puvanarajah S, van de Warrenburg B.
PMID: 32922823
Cerebellum Ataxias. 2020 Aug 03;7:11. doi: 10.1186/s40673-020-00120-2. eCollection 2020.

Spinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA mutations and of phenotypic characteristics of SCA3 patients among Malaysians. Pooled data from...

Cerebello-thalamic activity drives an abnormal motor network into dystonic tremor.

NeuroImage. Clinical

Nieuwhof F, Toni I, Dirkx MF, Gallea C, Vidailhet M, Buijink AWG, van Rootselaar AF, van de Warrenburg BPC, Helmich RC.
PMID: 34929584
Neuroimage Clin. 2021 Dec 16;33:102919. doi: 10.1016/j.nicl.2021.102919. Epub 2021 Dec 16.

Dystonic tremor syndromes are highly burdensome and treatment is often inadequate. This is partly due to poor understanding of the underlying pathophysiology. Several lines of research suggest involvement of the cerebello-thalamo-cortical circuit and the basal ganglia in dystonic tremor...

Cerebello-thalamic activity drives an abnormal motor network into dystonic tremor.

NeuroImage. Clinical

Nieuwhof F, Toni I, Dirkx MF, Gallea C, Vidailhet M, Buijink AWG, van Rootselaar AF, van de Warrenburg BPC, Helmich RC.
PMID: 34929584
Neuroimage Clin. 2021 Dec 16;33:102919. doi: 10.1016/j.nicl.2021.102919. Epub 2021 Dec 16.

Dystonic tremor syndromes are highly burdensome and treatment is often inadequate. This is partly due to poor understanding of the underlying pathophysiology. Several lines of research suggest involvement of the cerebello-thalamo-cortical circuit and the basal ganglia in dystonic tremor...

Natural History of Polymerase Gamma-Related Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Bender F, Timmann D, van de Warrenburg BP, Adarmes-Gómez AD, Bender B, Thieme A, Synofzik M, Schöls L.
PMID: 34288125
Mov Disord. 2021 Nov;36(11):2642-2652. doi: 10.1002/mds.28713. Epub 2021 Jul 20.

BACKGROUND: Mutations in the mitochondrial DNA polymerase gamma are causing a wide phenotypic spectrum including ataxia as one of the most common presentations.OBJECTIVE: The objective of this study was to determine the course of disease of polymerase gamma-related ataxia.METHODS:...

Showing 1 to 12 of 54 entries