292) The causative genetic mutation is an expanded CAG repeat in the HTT gene encoding the Huntingtin protein, and is inherited in an autosomal dominant manner. |
PMID:23975844 DOI:10.1007/7854_2013_238 |
2015 Current topics in behavioral neurosciences |
* Clinical Aspects of Huntington's Disease. |
- Huntington's disease (HD) is a devastating inherited neurodegenerative condition characterized by progressive motor, cognitive, and psychiatric symptoms. Symptoms progress over 15-20 years, and there are currently no disease-modifying therapies. The causative genetic mutation is an expanded CAG repeat in the HTT gene encoding the Huntingtin protein, and is inherited in an autosomal dominant manner. In this chapter we discuss the genetics, clinical presentation, and management of this condition, as well as new data from large-scale clinical research studies on the natural history of HD. |
(1)75 expression | (15)5 of | (29)3 block | (43)2 mutation |
(2)34 order | (16)5 transfer | (30)3 can | (44)2 on |
(3)32 arrangement | (17)5 were | (31)3 contents | (45)2 overlap |
(4)31 and | (18)4 activation | (32)3 polymorphisms | (46)2 peptide |
(5)21 *null* | (19)4 delivery | (33)3 sequencing | (47)2 profiling |
(6)15 was | (20)4 encoding | (34)3 transcription | (48)2 regions |
(7)12 expression, | (21)4 expressions | (35)2 analysis | (49)2 sequence |
(8)9 arrangement, | (22)4 fragments | (36)2 carriers | (50)2 sequences, |
(9)7 composition | (23)4 is | (37)2 cluster | (51)2 spookier |
(10)7 organization | (24)4 silencing | (38)2 clusters | (52)2 synteny |
(11)7 sequences | (25)4 to | (39)2 content | (53)2 therapy, |
(12)5 flow | (26)4 which | (40)2 family | (54)2 used |
(13)5 for | (27)3 alterations | (41)2 from | (55)2 uses |
(14)5 in | (28)3 as | (42)2 has |
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