THE D216H VARIANT IN THE DYT1 GENE: A SUSCEPTIBILITY FACTOR FOR DYSTONIA IN FAMILIAL CASES?

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

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Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A ( DYT1 ) gene

Neurogenetics ◽

10.1007/s10048-002-0135-7 ◽

2002 ◽

Vol 4 (2) ◽

pp. 105-106 ◽

Cited By ~ 6

Author(s):

Takeshi Ikeuchi ◽

Yoshiko Nomura ◽

Masaya Segawa ◽

Laurie Ozelius ◽

Takayoshi Shimohata ◽

...

Keyword(s):

Founder Effects ◽

Torsion Dystonia ◽

Dyt1 Gene ◽

Primary Torsion ◽

Primary Torsion Dystonia

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Differential susceptibility to effects of the home environment on motor developmental outcomes of preschool children: low birthweight status as a susceptibility factor

Early Child Development and Care ◽

10.1080/03004430.2015.1085862 ◽

2015 ◽

Vol 186 (8) ◽

pp. 1227-1242 ◽

Cited By ~ 6

Author(s):

Jennifer Chun-Li Wu ◽

Tung-liang Chiang

Keyword(s):

Preschool Children ◽

Home Environment ◽

Low Birthweight ◽

Differential Susceptibility ◽

Developmental Outcomes ◽

Susceptibility Factor

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Familial Kaposi’s Sarcoma: A Report of Five Cases from Greece

Case Reports in Dermatological Medicine ◽

10.1155/2014/671631 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5

Author(s):

Kalliopi Armyra ◽

Anargyros Kouris ◽

Arsinoi Xanthinaki ◽

Alexandros Stratigos ◽

Irene Potouridou

Keyword(s):

Case Report ◽

Kaposi's Sarcoma ◽

Kaposi’S Sarcoma ◽

Familial Cases ◽

Familial Clustering ◽

Southern Greece

Introduction. Familial cases of Kaposi’s sarcoma have rarely been reported. Kaposi’s sarcoma is not uncommon in Greece; its incidence is estimated at 0.20 per 100.000 habitants, showing an increased predominance in the Peloponnese, in Southern Greece.Case Report. We describe five cases of familial clustering of KS originating from Greece.Discussion. The pathogenesis of familial Kaposi’s sarcoma is still far from being completely understood. Genetic, environmental, and infectious factors have been incriminated.

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