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Article

Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.

Human genetics - 1 Jun 1992

Abrahamson M, Jonsdottir S, Olafsson I, Jensson O, Grubb A

Abstract excerpt

Hereditary cystatin C amyloid angiopathy (HCCAA) is a dominantly inherited disease characterized by amyloidosis, dementia and fatal cerebral hemorrhage of young adults. A method for rapid and simple diagnosis of HCCAA is described. It is based upon oligonucleotide-directed enzymatic amplification of a 275-bp genomic DNA segment containing exon 2 of the cystatin C gene from a blood sample, followed by digestion of...

Topics

Amino Acid Sequence
Base Sequence
Blotting, Southern
Cerebral Amyloid Angiopathy
Cerebrospinal Fluid Proteins
Cystatin C
Cystatins
Humans
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1352269
DOI: 10.1007/BF00194306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1352269-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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