Adult leukodystrophy

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Leukodystrophies are a heterogeneous group of genetic disorders affecting the white matter of the central nervous system and sometimes with peripheral nervous system involvement. There are over 40 different leukodystrophies, with an overall population incidence of 1 in live births. They are now most commonly grouped based on the initial pattern of central nervous system white matter abnormalities on neuroimaging.

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Alternative titles; symbols. Autosomal dominant adult-onset demyelinating leukodystrophy is a slowly progressive and fatal disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. ADLD differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis summary by Padiath et al.

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Autosomal dominant adult-onset demyelinating leukodystrophy ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a year old man manifested with autonomic abnormalities, pyramidal tract dysfunction.

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Acta Neuropathologica. The findings are described in an adult case of metachromatic leukodystrophy examined by light, polarization and electron microscopy. Symmetrical demyelination was found in the cerebral hemispheres, but was moderate in the cerebellum, brain stem and spinal cord.

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Currently, over 40 different leukodystrophies have been described. The brain's white matter consists of axons, the "cables" that build up a complex network of connections between different nerve cells. These axons are wrapped by a thick insulating membrane, referred to as myelin, which is important for the isolation and protection of axons.

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Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood.

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The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available.

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Adult-onset leukodystrophies are uncommon compared to those that present in childhood and in most instances are a delayed and atypical presentation of conditions more common in childhood. They are important differential considerations when assessing adults with white matter diseases. It should be noted that the term leukodystrophy and which conditions are considered to be leukodystrophies varies from publication to publication. This is discussed in greater detail in the general article: leukodystrophy.

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Psychiatrists, psychiatric residents, non psychiatric physicians, psychologists, philosophers or other health professionals or persons interested in this area can take part in the journal. This journal publishes original works, revision or updating articles, case reports of all psychiatry and mental health areas, epistemology, mind philosophy, bioethics and also articles about methodology of research and critical reading. CiteScore measures average citations received per document published.

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The Leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells. These disorders are progressive, meaning that they tend to get worse throughout the life of the patient. Below we describe the source of the disorders in more detail. Fact sheets on the individual Leukodystrophies are also available from the United Leukodystrophy Foundation.


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