In Search Of Ondine's Curse

Páginas: 2 (317 palabras) Publicado: 5 de noviembre de 2012
In search of Ondine's Curse

Ondine's Curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation, is a respiratory disorder that is fatal ifuntreated. Persons afflicted with Ondine's curse classically suffer from respiratory arrest during sleep.
Persons who have CCHS have it at birth, or develop it due to severe neurological trauma/damage to thebrainstem. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. (Chin, 2006).[1] Thereare also cases when the diagnosis as made in later life and middle age, although the symptoms are usually obvious in retrospect. Again, lack of awareness in the medical community may cause such adelay.[2]
This very rare and serious form of central nervous system failure, involving an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.
Aperson’s gender or race is not a determining factor when dealing with susceptibility to CCHS. Males and females are both affected equally and a person's ethnicity, as of this point, has not beenconsidered a significant variable.[1]

Transgenic and knockout mice in the study of neurodegenerative diseases

Accurate animal models are essential for detailed analysis of the mechanisms underlyinghuman neurodegenerative diseases. In addition, they can offer useful paradigms for the development and evaluation of new therapeutic strategies. We review the most popular techniques for modification ofthe mammalian genome in vivo, and provide a critical evaluation of the available transgenic mouse models for several neurological conditions of humans, including prion diseases, human retroviral...
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