Literature DB >> 24275943

Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy.

Roberto Erro1, Andrew J Lees2, Marcello Moccia3, Marina Picillo3, Silvana Penco4, Lorena Mosca4, Carmine Vitale5, Paolo Barone6.   

Abstract

A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms slowly progressed and further included occasional unexplained falls. On examination, he showed a severe parkinsonian syndrome featuring bradykinesia, rigidity (axial > appendicular), and positive pull-test finding. Moreover, there was an upgaze supranuclear palsy and slow saccades on vertical plane. Magnetic resonance imaging was performed that revealed significant basal ganglia lesions and white matter hyperintensities, including periventricular regions and both frontal and temporal subcortical areas, along with moderate widespread atrophy and ventricular enlargement. Here, we reveal the pathological diagnosis and discuss the approach to the clinical data.

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Year:  2014        PMID: 24275943     DOI: 10.1001/jamaneurol.2013.5149

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN: 2168-6149            Impact factor:   18.302


  6 in total

Review 1.  Vascular Parkinsonism: deconstructing a syndrome.

Authors:  Joaquin A Vizcarra; Anthony E Lang; Kapil D Sethi; Alberto J Espay
Journal:  Mov Disord       Date:  2015-05-21       Impact factor: 10.338

2.  NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.

Authors:  Maria Rosário Almeida; Inês Elias; Carolina Fernandes; Rita Machado; Orlando Galego; Gustavo Santo
Journal:  Neurogenetics       Date:  2021-12-01       Impact factor: 2.660

Review 3.  Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases.

Authors:  Dorothee Schoemaker; Joseph F Arboleda-Velasquez
Journal:  Am J Pathol       Date:  2021-04-22       Impact factor: 4.307

4.  Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.

Authors:  Tommaso Pippucci; Alessandra Maresca; Pamela Magini; Giovanna Cenacchi; Vincenzo Donadio; Flavia Palombo; Valentina Papa; Alex Incensi; Giuseppe Gasparre; Maria Lucia Valentino; Carmela Preziuso; Annalinda Pisano; Michele Ragno; Rocco Liguori; Carla Giordano; Caterina Tonon; Raffaele Lodi; Antonia Parmeggiani; Valerio Carelli; Marco Seri
Journal:  EMBO Mol Med       Date:  2015-06       Impact factor: 12.137

Review 5.  Movement Disorders Following Cerebrovascular Lesions: Etiology, Treatment Options and Prognosis.

Authors:  Do-Young Kwon
Journal:  J Mov Disord       Date:  2016-05-25

6.  Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia.

Authors:  Weihang Guo; Baolei Xu; Hong Sun; Jinghong Ma; ShanShan Mei; Jingrong Zeng; Junyan Sun; Erhe Xu
Journal:  Front Neurol       Date:  2022-01-10       Impact factor: 4.003

  6 in total

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