Abstracts

Biological sciences

Search abstracts:

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)

Article Abstract:

Idiopathic basal ganglia calcification (IBGC), or Fahr disease, is discussed relative to identification of a locus on chromosome 14q for this neurodegenerative syndrome associated with various movement/cognitive disorders. A multigenerational family with dominantly inherited IBGC was identified and a whole-genome scan performed using polymorphic microsatellite markers to identify the first chromosomal locus for the disorder. Age at onset seemed to be decreasing by an average of more than 20 years with each transmission, in accordance with genetic anticipation.

Statistical Data Included, Central nervous system, Movement disorders, Cognition disorders, Cognitive disorders, Ganglia

---

Multiple ATM-dependent pathways: an explanation for pleiotropy

Article Abstract:

Ataxia-telangiectasia (AT) is a rare autosomal recessive genetic disorder, a syndrome known for its pleiotropic phenotype with degenerative neurological function, especially in the cerebellum, and oculocutaneous telangiectasias. Other problems may also be involved ad the cell lines from AT patients have characteristic abnormalities. ATM is the gene mutated in AT. Multiple ATM-dependent pathways may furnish an explanation for pleiotropy. Perhaps therapies can be developed for the disorder with increased understanding of genetic aspects.

DNA damage, Nervous system, Cell cycle, Cellular control mechanisms, Cell regulation, Ataxia telangiectasia, Syndromes, Nervous system abnormalities

---

Similar abstracts:

• Abstracts: Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling
• Abstracts: Structure of the GM2A (ital) gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2
• Abstracts: Are we ready to try to cure alkaptonuria? A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32
• Abstracts: Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 (ital) mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
• Abstracts: Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. A Huntington disease-like neurodegenerative disorder maps to chromosome 20p

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.