DESIGN AND @entity1 : Subjects with @entity1687 have been reported to @entity1109 , including @entity2725 . In this study, 5 @entity1 with juvenile @entity8706 were evaluted for @entity25 using nocturnal polysomnography, clinical evaluation, and the Multiple Sleep Latency Test. HLA typing and cerebrospinal fluid hypocretin levels were also evaluated in 4 @entity1 . @entity8706 diagnosis was confirmed in all cases biochemically and by the presence of foam cells in the bone marrow. RESULTS: Deterioration of intellectual function; the presence of @entity3520 ; and @entity381 were observed in all cases. Cataplexy was reported in 1 @entity1 . Nocturnal polysomnography revealed disrupted sleep in all @entity1 . Total sleep time, sleep efficiency, rapid eye @entity10522 , and delta sleep amounts were decreased when compared to age-matched controls. Altered sleep patterns included sudden increases in muscle tone during delta sleep, electroencephalographic sigma activity connected with rapid eye movements and @entity121 , atypical K-complexes and spindle activity, and the presence of alpha-delta sleep. All @entity8706 cases exhibited fragmentary @entity2045 . Shortened mean sleep latencies were observed in 3 @entity1 during the Multiple Sleep Latency Test, but sleep-onset rapid eye movement periods were observed only in the case with @entity2725 . This @entity1 was HLA DQB1*0602 positive, while the other subjects were HLA negative. Cerebrospinal fluid hypocretin-1 levels were reduced in 2 @entity1 (1 with @entity2725 ) while in the 2 other @entity1 , the levels were at the lower range of the normal values. @entity18206 levels in the @entity8706 group (204.8 +/- 39.3 pg/mL) were significantly reduced when compared to controls (265.8 +/- 48.8 pg/mL). CONCLUSIONS: The findings suggest that lysozomal storage abnormalities in @entity8706 @entity1 may impact the hypothalamus and, more specifically, @entity18206 -containing cells. These changes might be partially responsible for @entity25 and @entity2725 in @entity1 with @entity8706 .

Sleep disturbances and hypocretin deficiency in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'PATIENTS'] @entity2725 :: ('MESH:D002385', 'Disease') :: ['cataplexy'] @entity3520 :: ('MESH:D020821', 'Disease') :: ['pyramidal, dystonic and cerebellar features'] @entity2045 :: ('MESH:D009207', 'Disease') :: ['myoclonus'] @entity10522 :: ('MESH:D020189', 'Disease') :: ['movement sleep'] @entity1687 :: ('MESH:D052556', 'Disease') :: ['Niemann-Pick disease, type C'] @entity1109 :: ('MESH:D012678', 'Disease') :: ['display narcolepsylike symptoms'] @entity8706 :: ('MESH:D009542', 'Disease') :: ['Niemann-Pick disease'] @entity381 :: ('MESH:D013163', 'Disease') :: ['splenomegaly'] @entity18206 :: ('MESH:C110857', 'Chemical') :: ['Hypocretin', 'hypocretin'] @entity121 :: ('MESH:D009135', 'Disease') :: ['muscle atonia'] @entity25 :: ('MESH:D012893', 'Disease') :: ['sleep abnormalities']
@entity1687 :: (MESH:D052556,Disease) :: ['Niemann-Pick disease type C']
