PMID: 8606564Apr 13, 1996Paper

Prenatal diagnosis of Batten's disease

Lancet
P B MunroeI Jarvela

Abstract

Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1kb deletion, which is carried by 81% of Batten's disease patients. We report on the use of direct gene analysis in the prenatal diagnosis of this disease. A Finnish woman with a son with Batten's disease came for genetic counselling for her current pregnancy. Electron microscopy of a chorionic villus sample gave suggestive findings. We used PCR to look for the intragenic microsatellite marker D16S298; 96% of Finnish Batten's disease patients carry allele 6 at this marker. The fetus and the affected son both carried the same high-risk genotype, 6/6. Both were homozygous for the 1 kb deletion. The pregnancy was terminated. Electron microscopy of the fetus showed typical Batten's disease changes. We have successfully used direct gene analysis in the prenatal diagnosis of Batten's disease.

Citations

Aug 10, 2000·Italian Journal of Neurological Sciences·N Nardocci, F Cardona
Aug 25, 2006·Current Neurology and Neuroscience Reports·M Tariq Bhatti
May 29, 2000·Current Opinion in Genetics & Development·L PeltonenJ Vesa
Feb 13, 2001·Journal of Intellectual Disability Research : JIDR·S LamminrantaP Santavuori
Dec 1, 1996·Journal of Medical Genetics·I JärveläA C Syvänen
Dec 10, 1997·Journal of Medical Genetics·P E TaschnerM H Breuning
Jan 1, 1996·Journal of Inherited Metabolic Disease·S E Mole
Jun 23, 2009·Survey of Ophthalmology·Sara BozorgDavid A Pearce
Aug 1, 1997·American Journal of Human Genetics·P B MunroeS E Mole
Jan 1, 2013·Biochimica Et Biophysica Acta·Stanislav KmochHannah M Mitchison
Apr 7, 1999·Molecular Genetics and Metabolism·K OishiY Eto
Apr 7, 1999·Molecular Genetics and Metabolism·R E WilliamsB D Lake
Mar 9, 1999·Neurobiology of Disease·S E Mole
Nov 13, 2008·Prenatal Diagnosis·Sajida NaseemFarhaan Vahidy
Feb 21, 2019·Nature Reviews. Neurology·Tyler B JohnsonJill M Weimer
Feb 11, 1998·Brain Pathology·B D LakeB G Winchester
Mar 11, 2003·Human Genetics·Reijo Norio
Feb 11, 1998·Brain Pathology·H H Goebel, J D Sharp

❮ Previous
Next ❯

Related Concepts

Related Feeds

Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.