Genetics and Neuropathology of Primary Pure Dystonia.
Summary of "Genetics and Neuropathology of Primary Pure Dystonia."
Neuropathology has been the key to understanding the aetiology of many neurological disorders such as Alzheimer's disease, Parkinson's disease, frontotemporal degeneration and cerebellar ataxias. Dystonia shares many clinical features with these conditions but research in general, has been unrewarding in providing information on disease processes. Neuropathological studies are few in number and only limited morphological abnormalities have been described. In the genetic literature, dystonia loci are represented as DYT and are assigned ascending numerals chronologically as they are identified. This review will concentrate on the neuropathology of primary pure dystonia, focusing on DYT1 and DYT6 and the correlation between clinical and genetic findings. Research in this area is incomplete and confounded by the rarity of postmortem brain tissue. However, recent findings, indicating a direct interaction between the torsinA (TOR1A) gene responsible for DYT1 and the thanatos-associated domain-containing apoptosis-associated protein 1(THAP1) gene responsible for DYT6, have important implications in understanding these two entities and also for other members of this group of disorders. © 2012 UCL Institute of Neurology. Neuropathology and Applied Neurobiology © 2012 British Neuropathological Society.
Affiliation
Department of Molecular Neuroscience, Queen Square Brain Bank and, UCL Institute of Neurology, London, UK.
Journal Details
This article was published in the following journal.
Name: Neuropathology and applied neurobiology
ISSN: 1365-2990
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22897341
- DOI: http://dx.doi.org/10.1111/j.1365-2990.2012.01298.x
Medical and Biotech [MESH] Definitions
Dystonic Disorders
Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.
Dystonia
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Pantothenate Kinase-associated Neurodegeneration
A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
Audiometry, Pure-tone
Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli.
Cerebellar Neoplasms
Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)
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