Autosomal dominant undifferentiated spondyloarthropathy not related to the HLA system.

Familial aggregation of undifferentiated spondyloarthropathy associated with HLA-B7.

OBJECTIVE To report multiple cases of recurrent seronegative arthropathy, enthesopathy, or both, occurring in a single family in the absence of the HLA-B27 tissue type, coexistent psoriasis or inflammatory bowel disease. METHODS Three generations of one family together with their general practitioners completed a standard questionnaire. All subjects with a positive questionnaire and two rando...

ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy

Autosomal dominant lateral temporal epilepsy (ADTLE) is an inherited epileptic syndrome characterized by ictal auditory symptoms or aphasia, negative MRI findings, and relatively benign evolution. Mutations responsible for ADLTE have been found in the LGI1 gene. The functions of the Lgi1 protein apparently are mediated by interactions with members of the ADAM protein family: it binds the postsy...

The natural history of OPA1-related autosomal dominant optic atrophy.

BACKGROUND/AIMS Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous disease. However, a large proportion of this disease is accounted for by mutations in OPA1. The aim of this longitudinal study was to investigate disease progression in Australian ADOA patients with confirmed OPA1 mutations. METHODS Probands with characteristic clinical findings of ADOA were screened for OPA...

How does HLA-B27 affect susceptibility to spondyloarthropathy?

Is undifferentiated seronegative spondyloarthropathy a forme fruste of reactive arthritis?

Undifferentiated spondyloarthropathy (USpa) may either represent a forme fruste of other spondyloarthropathies like reactive arthritis or be a different disease entity. To study the link between USpa and reactive arthritis, we studied the presence of IgA antibodies to Yersinia enterocolitica, Salmonella typhimurium, Shigella flexneri, Campylobacter jejuni and Chlamydia trachomatis in sera from ...