The goal of genetic testing for hereditary neurological diseases is to determine whether or not a patient has the disease, or is likely to develop it. Determining the molecular cause of a neurological disease can open the door to individually tailored treatment and medical care, and allow families to avoid invasive and often costly testing and procedures.
Articles on neurology
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
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.
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding…
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,…
17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report
Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. We report a 7.5-year-old boy with speech and…