Unilateral neglect is usually caused by lesions of the right cerebral cortex, especially parietal. Neglect after subcortical lesions has been reported rarely in thalamic or striatal hemorrhage, and after infarction of thalamus or striatum and internal capsule shown by CT. In these patients, there may have been compression or ischemia of overlying cerebral cortex and white matter. We report a patient with sensory hemineglect, asomatognosia, and anosognosia caused by infarction of striatum and deep white matter, with involvement of neither cortex nor thalamus and without mass effect. This is the first autopsy-confirmed example of human neglect with involvement of only the striatum and deep white matter.

Anosognosia

10.1212/wnl.32.7.776

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Citations (92)

Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium

Genome Research (1997)

Laurie J. Ozelius Jeffrey Hewett Patricia Kramer Susan Bressman Christo Shalish

The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%–40%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the AJ population placed the DYT1 gene in a 2-cM region between the loci D9S62a and ASS . A YAC contig has now been created spanning 600 kb of this region including D9S62a . The location of the DYT1 gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation. The most likely location of the DYT1 gene is within a 150 kb region between the loci D9S2161 and D9S63 .

Linkage Disequilibrium

Penetrance

Genetic linkage

10.1101/gr.7.5.483

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Citations (64)

Muscle pattern changes in patients with cervical dystonia (CD) receiving botulinum toxin (BTX) (P4.8-001)

Neurology (2019)

Eric Gutflais Rachel Saunders‐Pullman Susan Bressman Matthew Swan Erin Deegan

Cervical dystonia

10.1212/wnl.92.15_supplement.p4.8-001

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Citations (0)

LRRK2G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

New England Journal of Medicine (2006)

Laurie J. Ozelius Geetha Senthil Rachel Saunders‐Pullman Erin Ohmann Amanda Deligtisch

To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been identified.1 Recen...

LRRK2

10.1056/nejmc055509

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Citations (653)

Issue Information

Annals of Clinical and Translational Neurology (2021)

John A. Kessler Andrew Cole Leon G. Epstein Jennifer Graves Ahmet Höke

Annals of Clinical and TranslationalNeurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology.The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.All areas of clinical and basic neuroscience, including new technologies, cellular and molecular neurobiology, population sciences, and studies of behavior, addiction, and psychiatric diseases are of interest to the journal.Annals of Clinical and Translational Neurology is particularly interested in clinical trials and other large-scale studies that inform the practice of medicine.Trials reporting negative data will be considered.In addition to manuscripts from established investigators, Annals of Clinical and Translational Neurology will welcome scholarly work, points-of-view, and case studies from residents, fellows and medical students.

Annals

10.1002/acn3.51087

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Microstructural white matter changes in primary torsion dystonia

Movement Disorders (2007)

Maren Carbon Peter B. Kingsley Chengke Tang Susan Bressman David Eidelberg

Abstract Primary torsion dystonia (PTD) has been conceptualized as a disorder of the basal ganglia. However, recent data suggest a widespread pathology involving motor control pathways. In this report, we explored whether PTD is associated with abnormal anatomical connectivity within motor control pathways. We used diffusion tensor magnetic resonance imaging (DT‐MRI) to assess the microstructure of white matter. We found that fractional anisotropy, a measure of axonal integrity and coherence, was significantly reduced in PTD patients in the pontine brainstem in the vicinity of the left superior cerebellar peduncle and bilaterally in the white matter of the sensorimotor region. Our data thus support the possibility of a disturbance in cerebello‐thalamo‐cortical pathways as a cause of the clinical manifestations of PTD. © 2007 Movement Disorder Society

Movement Disorders

10.1002/mds.21806

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Citations (111)

Disordered network structure and function in dystonia: Pathological connectivity vs. adaptive responses

Research Square (Research Square) (2022)

An Vo Nha Nguyen Koji Fujita Katharina A. Schindlbeck Andrea Rommal

Abstract Primary dystonia is thought to emerge through abnormal functional relationships between basal ganglia and cerebellar motor circuits. These interactions may differ across disease subtypes and provide a novel biomarker for diagnosis and treatment. Using a network mapping algorithm based on resting-state functional MRI (rs-fMRI), a method that is readily implemented on conventional MRI scanners, we identified similar disease topographies in hereditary dystonia associated with the DYT1 or DYT6 mutations and in sporadic patients lacking these mutations. Both networks were characterized by contributions from the basal ganglia, cerebellum, thalamus, sensorimotor areas, as well as cortical association regions. Expression levels for the two networks were elevated in hereditary and sporadic dystonia, and in non-manifesting carriers of dystonia mutations. Nonetheless, the distribution of abnormal functional connections differed across groups, as did metrics of network organization and efficiency in key modules. Despite these differences, network expression correlated with dystonia motor ratings, significantly improving the accuracy of predictions based on thalamocortical tract integrity obtained with diffusion tensor MRI (DTI). Thus, in addition to providing unique information regarding the anatomy of abnormal brain circuits, rs-fMRI functional networks may provide a widely accessible method to help in the objective evaluation of new treatments for this disorder.

Movement Disorders

10.21203/rs.3.rs-1858543/v1

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Citations (1)

Issue Information

Annals of Clinical and Translational Neurology (2022)

John A. Kessler Andrew J. Cole Leon G. Epstein Jennifer Graves Ahmet Höke

Annals

10.1002/acn3.51392

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Citations (0)

Microstructural white matter changes in carriers of the DYT1 gene mutation

Annals of Neurology (2004)

Maren Carbon Peter B. Kingsley Sherwin L. Su Gwenn S. Smith Phoebe Spetsieris

Abstract We tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex. We used diffusion tensor magnetic resonance imaging (DTI) to assess the microstructure of white matter pathways in mutation carriers and control subjects. Fractional anisotropy (FA), a measure of axonal integrity and coherence, was reduced ( p < 0.005) in the subgyral white matter of the sensorimotor cortex of DYT1 carriers. Abnormal anatomical connectivity of the supplementary motor area may contribute to the susceptibility of DYT1 carriers to develop clinical manifestations of dystonia. Ann Neurol 2004

10.1002/ana.20177

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Citations (133)

Gender differences in the IL6 −174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease

Neuroscience Letters (2011)

Marta San Luciano Laurie J. Ozelius Richard B. Lipton Deborah Raymond Susan Bressman

Linkage Disequilibrium

SNP

10.1016/j.neulet.2011.11.032

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Citations (19)