Publications

Articles tagged with Movement disorders

  • Utility and implications of exome sequencing in early-onset Parkinson's disease.

    Although the genetic load is high in early-onset Parkinson’s disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes for PD and other movement disorders and to find new candidates in 50 patients…

  • Comprehensive Dystonia Panel

    Dystonias are a diverse spectrum of neurological movement conditions characterized by sustained muscle contractions (spasms) causing repetitive twisting movements or abnormal postures. Dystonia can be a chronic and disabling condition, localized to areas such as the head and neck or individual…

  • Dementia Panel

    Dementia is a clinical syndrome of progressive deterioration of cognitive abilities and functional impairments. Approximately 25% of all people aged 55 years and older have a family history of dementia.

  • Alzheimer’s Disease Type 4 (AD4)

    Alzheimer’s disease (AD) is the most common form of dementia. The term dementia describes a set of symptoms that can include memory loss and difficulties with thinking, problem-solving or language. In early stages, AD patients typically have memory loss, confusion, and inability to learn.

  • Alzheimer’s Disease Type 3 (AD3)

    Alzheimer’s disease (AD) is the most common form of dementia. The term dementia describes a set of symptoms that can include memory loss and difficulties with thinking, problem-solving or language. In early stages, AD patients typically have memory loss, confusion, and inability to learn.

  • Alzheimer Dementia and Dementia Panel

    Alzheimer’s disease (AD) is the most common form of dementia, affecting millions of people worldwide 1. Dementia is the loss of cognitive functioning, e.g. thinking, remembering, and reasoning, and behavioral abilities to such an extent that it interferes with a person’s daily life and activities

  • Frontotemporal Dementia

    Frontotemporal dementia (FTD) is a clinically and pathologically heterogeneous group of non-Alzheimer dementias characterized by selective and progressive atrophy involving the frontal or temporal lobes. It typically develops in the sixth decade of life, but some cases manifest at younger ages,…

  • GRIN2B Encephalopathy: Novel Findings

    We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from…

  • Autosomal Dominant Parkinson's Disease in a Large German Pedigree

    Parkinson´s disease (PD) is a common disabling neurodegenerative disorder characterized by bradykinesia, rest tremor, rigidity, and postural instability with a prevalence of 2% in elderly persons. While several genes have been identified to cause Parkinson´s disease (PD), monogenic forms explain…

  • An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech

    The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. We…