Neuroacanthocytosis Syndromes: The Clinical Perspective

The two very rare neurodegenerative diseases historically known as the “neuroacanthocytosis syndromes” are due to mutations of either VPS13A or XK. These are phenotypically similar disorders that affect primarily the basal ganglia and hence result in involuntary abnormal movements as well as neurops...

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Vydáno v:Contact Ročník 6; s. 25152564231210339
Hlavní autoři: Walker, Ruth H., Peikert, Kevin, Jung, Hans H., Hermann, Andreas, Danek, Adrian
Médium: Journal Article
Jazyk:angličtina
Vydáno: Los Angeles, CA SAGE Publications 01.01.2023
Sage Publications Ltd
SAGE Publishing
Témata:
Abnormalities
Basal ganglia
Cell membranes
Chorea
Cognitive ability
Disorders
Ganglia
Lipids
Neurodegenerative diseases
Therapeutic applications
VPS13A
chorea
BLTP
acanthocytosis
XK
lipid
ISSN:2515-2564, 2515-2564
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Popis
Shrnutí:The two very rare neurodegenerative diseases historically known as the “neuroacanthocytosis syndromes” are due to mutations of either VPS13A or XK. These are phenotypically similar disorders that affect primarily the basal ganglia and hence result in involuntary abnormal movements as well as neuropsychiatric and cognitive alterations. There are other shared features such as abnormalities of red cell membranes which result in acanthocytes, whose relationship to neurodegeneration is not yet known. Recent insights into the functions of these two proteins suggest dysfunction of lipid processing and trafficking at the subcellular level and may provide a mechanism for neuronal dysfunction and death, and potentially a target for therapeutic interventions.
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ISSN:2515-2564
2515-2564
DOI:10.1177/25152564231210339