Dystrophin and dystrophin-related protein in the central nervous system of normal controls and Duchenne muscular dystrophy

During the last 10 years it has become apparent that a significant subset of inherited muscular dystrophy is caused by errors in the glycosylation of α-dystroglycan. Many of these dystrophies are also associated with abnormalities of the central nervous system. Dystroglycan has to be fully glycosylated in order bind to its ligands. To date, six genes have been shown to be essential for functional dystroglycan glycosylation and most, if not all, of these genes act in the formation of O-mannosyl glycans. Genetic heterogeneity indicates that other genes are involved in this pathway. Identification of these additional genes would increase our understanding of this specific and essential glycosylation pathway.

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THE SPIDER NEVUS IN INFANCY AND CHILDHOOD

PEDIATRICS ◽

10.1542/peds.33.2.227 ◽

1964 ◽

Vol 33 (2) ◽

pp. 227-232

Author(s):

James E. Wenzl ◽

E. Omer Burgert

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Chronic Illnesses ◽

Healthy Children ◽

Normal Children ◽

Infancy And Childhood ◽

Spider Nevus ◽

The Central Nervous System ◽

Anatomic Distribution ◽

Normal Controls

At the Mayo Clinic 711 children, ranging in age from birth to 15 years, were examined for the presence of spider nevi. The children were divided into three groups: normal controls, patients with chronic illness and patients with disease of the central nervous system. In the normal children, the incidence of spider nevi increased rapidly after 2 years of age to reach a plateau at about the time of puberty for both sexes. In children more than 13 years of age the incidence appeared to be decreasing, presumably toward the stated incidence of 12 to 15% in so-called normal adults. In normal children, spider nevi appeared to occur more frequently in pubertal females than in pubertal males. The incidence was increased in both sexes in patients more than 4 years of age with disease of the central nervous system. In patients with chronic illnesses, there was no significant increase in spider nevi, but the ratio of pubertal females to pubertal males was reversed. The anatomic distribution in all groups differed from that of adults, the dorsum of the hands and forearms being the sites of predilection in children. In view of the frequency of these lesions in childhood, it appears that the presence of spider nevi in otherwise healthy children is an insignificant stigma.

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Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis: interrelation between haplogroup J and MS in Persian patients

Multiple Sclerosis Journal ◽

10.1191/1352458505ms1228sr ◽

2005 ◽

Vol 11 (6) ◽

pp. 728-730 ◽

Cited By ~ 15

Author(s):

M Houshmand ◽

M H Sanati ◽

F Babrzadeh ◽

A Ardalan ◽

M Teimori ◽

...

Keyword(s):

Multiple Sclerosis ◽

Central Nervous System ◽

Nervous System ◽

Young Adults ◽

Mitochondrial Dna ◽

Mitochondrial Haplogroups ◽

Mtdna Mutations ◽

Pcr Rflp ◽

The Central Nervous System ◽

Normal Controls

Background: Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system (CNS) which is chronically observed in young adults. On the basis of earlier studies, potential relatedness between MS and mitochondrial DNA (mtDNA) mutations was postulated. Materials and methods: 246 individuals were screened using the PCR-RFLP method, including 70 MS patients examined for mitochondrial haplogroups BM, J, K and M and 176, 149 and 70 normal controls examined for haplogroups BM and M, J and K, respectively. Results and discussion: Our analysis revealed a relatively high proportion of haplogroup BM in MS patients (∼26%) compared to normal controls (∼13%). In addition, a slightly significant increase of MS patients of haplogroup J (20% in MS patients versus 9.39% in normal controls at P-0.049), while haplogroups M and K did not show contribution to MS contingency (2.85 and 2.27%, respectively at P-1.000 in haplogroup M and 12.85 and 7.14% respectively at P-0.399 in haplogroup K).

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