Search PubMed⌕ Search

Biomedical subjects

B W Konigsmark

Publications and source records attributed to B W Konigsmark.

At least 37 records · Page 2Linked to original sources
PubMed1971

Syndromal approaches to the nosology of hereditary deafness.

Seventy types of hereditary deafness can be distinguished using the following features of the syndrome: 1) mode of genetic transmission, 2) characteristics of the deafness, 3) age of onset, 4) sonic frequencies involved and 5) associated abnormalities. The gene, in single or double dose, causing the hearing loss may also cause abnormalities of the external ear, or of the integumentary, visual, nervous, skeletal, or urinary systems. In this report the characteristics of the hearing loss in each of the types of hereditary hearing loss are reviewed in eight tables.

Abnormalities, Multiple↗
PubMed1971

Dominant olivopontocerebellar atrophy with dementia and extrapyramidal signs: report of a family through three generations.

The olivopontocerebellar atrophies (OPCA) can be divided into five disease entities. One of these, dominant OPCA with dementia and extrapyramidal signs, is better defined by the family we studied. Five persons in three generations were affected by progressive ataxia, tremor, rigidity and mental deterioration, beginning in their twenties and thirties. Neurologic examination showed mental deterioration, high-pitched dysarthric voice, gaze paresis, rigidity and coarse tremor. This disease differs from other dominant and recessive OPCAs clinically because of the prominent mental deterioration and extrapyramidal signs, and pathologically because of cortical, lentiform and substantia nigra neuronal loss.

Adolescent↗