Neuromyelitis optica and multiple sclerosis in sisters

Abstract

These cases confirmed the coexistence of NMO and MS in sisters, and further studies are needed to understand the genetic linkage between these diseases.

Familial neuromyelitis optica

“…17 Recently, 2 sisters, 1 with NMO and 1 with prototypic MS, were reported. 18 The frequency of NMO in family members of our NMO index cases is greater than expected based on the best estimate of its prevalence frequency in the general population of 1/100,000. 7,8 If the average pedigree size consisted of 100 first-and seconddegree relatives, which is likely an overestimate, one would expect 0.38 affected relatives among the 386 sporadic cases from which familial cases were derived at the collaborating institutions; we detected 12 cases Table 2 Comparison of sporadic and familial NMO ( p Ͻ 0.0001; 2 ).…”

Neuromyelitis Optica in Japanese Sisters

“…The HLA type of the elder sister was A2/33, B39/44, Cw7/-, DR 4/6, and DQ1/3 and that of the younger sister was A26/33, B44/62, Cw3/-, DR6/12, DQ1/-, and DP1/-(7). The onset ages in the forth case of sisters were 24 and 28 years (8). The HLA type of the elder sister was A*24, B*07, *15, DRB1*01, and *16 (DR2 positive) and that of the younger sister was A*02, 24, B*07, *40, DRB1*04, and *08 (8).…”

“…The onset ages in the forth case of sisters were 24 and 28 years (8). The HLA type of the elder sister was A*24, B*07, *15, DRB1*01, and *16 (DR2 positive) and that of the younger sister was A*02, 24, B*07, *40, DRB1*04, and *08 (8). In the fifth report of 4 sibling cases, the onset ages were 29.2 and 28.1 years, 28.4 and 26.5 years, 33.9 and 32.1 years, and 40.7 and 25.1 years (9).…”

“…The incidence of human leukocyte antigen (HLA)-DPB1*0501 was significantly increased in anti-AQP4Ab-positive Japanese patients as compared with healthy controls, but not in anti-AQP4Ab-negative OSMS patients (4). Furthermore, cases of familial NMO have been reported suggesting genetic influence (5)(6)(7)(8)(9). The mechanism of NMO is speculated to be associated with humoral immunity, but still remains to be fully elucidated (4,10,11).…”

Psychogenic movement disorder after a venlafaxine‐induced dystonia

“…There is strong evidence that the chronic L-dopa therapy exerts a pulsed nonphysiological stimulation of the dopamine receptors, resulting in the upregulation of the glutamatergic NMDA receptors in the striatum. 1,10 As a consequence, the glutamatergic transmission from the striatum to specific cortical areas, such as the supplementary motor area and the dorsolateral prefrontal cortex, 11,12 becomes overactive in PD, leading to the abnormal motor patterns of LIDs and motor fluctuations.…”