Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13

Nature Genetics
T D TaylorSusan J Hayflick

Abstract

Hallervorden-Spatz syndrome (HSS) (OMIM #234200) is a rare, autosomal recessive neurode-generative disorder with brain iron accumulation as a prominent finding. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Histologic study reveals massive iron deposits in the basal ganglia. Systemic and cerebrospinal fluid iron levels are normal, as are plasma levels of ferritin, transferrin and ceruloplasmin. Conversely, in disorders of systemic iron overload, such as haemochromatosis, brain iron is not increased, which suggests that fundamental differences exist between brain and systemic iron metabolism and transport. In normal brain, non-haem iron accumulates regionally and is highest in basal ganglia. Pathologic brain iron accumulation is seen in common disorders, including Parkinson's disease, Alzheimer's disease and Huntington disease. In order to gain insight into normal and abnormal brain iron transport, metabolism and function, our approach was to map the gene for HSS. A primary genome scan was performed using samples from a large, consanguineous family (HS1) (see Fig. 1). While this family was immensely powerful for mapping, the region demonstrating homozygosity in a...Continue Reading

References

Oct 29, 1992·Nature·J WeissenbachM Lathrop
Dec 1, 1991·Archives of Neurology·K F Swaiman
Feb 1, 1989·Journal of Neurochemistry·P RiedererM B Youdim
Jan 1, 1974·Archives of Neurology·E C DoolingE P Richardson
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott
Jan 15, 1994·Genomics·P J TienariL Peltonen
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Jul 1, 1994·Human Heredity·A A SchäfferR W Cottingham
Jul 1, 1993·Neurology·J Gordon
Dec 22, 1995·Science·T J HudsonE S Lander
Mar 1, 1996·Human Molecular Genetics·G GyapayP N Goodfellow

❮ Previous
Next ❯

Citations

Dec 19, 2001·Movement Disorders : Official Journal of the Movement Disorder Society·B A RacetteJ S Perlmutter
Jul 1, 1997·Somatic Cell and Molecular Genetics·C EckertV Narayanan
Apr 11, 2001·Mutation Research·J M De Freitas, R Meneghini
Sep 5, 2001·Neurologic Clinics·A Colcher, T Simuni
Sep 12, 2001·Pediatric Neurology·B ZhouJ M Gitschier
Sep 12, 2001·Pediatric Neurology·K F Swaiman
Sep 12, 2001·Pediatric Neurology·A H Koeppen, A C Dickson
Sep 12, 2001·Pediatric Neurology·S J HayflickP G Wheeler
Dec 4, 2003·Pediatric Neurology·Genevieve Po Gee Fung, Kwok Yin Chan
Jun 12, 2002·Free Radical Biology & Medicine·Benoit I GiassonJohn Q Trojanowski
Aug 8, 2001·Parkinsonism & Related Disorders·J Jankovic, R Tintner
May 19, 2000·Parkinsonism & Related Disorders·N Gouider-KhoujaF Hentati
Feb 3, 1998·Nature Biotechnology·A J Schafer, J R Hawkins
Apr 24, 2003·Neurotoxicity Research·D. BergO. Riess
Jun 13, 2000·Alzheimer Disease and Associated Disorders·G E CooperR D Jones
Feb 16, 2002·Topics in Magnetic Resonance Imaging : TMRI·Eric N Faerber, Tina Young Poussaint
Dec 21, 2006·Topics in Magnetic Resonance Imaging : TMRI·Daniela Berg, Moussa B H Youdim
Dec 1, 2004·Journal of Paediatrics and Child Health·P J Flett
Feb 1, 2011·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Takashi HaraguchiYosuke Uchitomi
May 23, 1998·Journal of Medical Genetics·P R Jarman, T T Warner
Nov 10, 2001·Annual Review of Genomics and Human Genetics·N C Andrews
Mar 6, 1999·Journal of Neurosurgery·C R JustesenR T Egel
Jul 28, 2011·Haematologica·Giovanni AbbruzzeseGian Luca Forni
Jan 25, 2014·Indian Journal of Psychiatry·Yogesh PawarNilesh Shah
Dec 9, 2000·Radiology·R P Guillerman
May 2, 2013·Case Reports in Neurological Medicine·Natalie Diaz
Oct 16, 2014·Advanced Biomedical Research·Maseumeh Dashti, Ahmad Chitsaz
May 30, 2001·Brain & Development·U VaherT Talvik
Nov 21, 2007·Pediatric Neurology·Donald C ShieldsEmad N Eskandar
Oct 9, 2003·Acta Psychiatrica Scandinavica·O OnerD Içağasioğlu
Jan 27, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Madhavi ThomasJoseph Jankovic
Aug 20, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Amaryllis Van CraenenbroeckPatrick Cras
Oct 6, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Travis S Tierney, Andres M Lozano
Apr 22, 2005·Neuroscience Letters·Thomas KlopstockKonstanze Hörtnagel
Mar 18, 2006·Journal of Comparative Pathology·D M BouleyS J Hayflick
Oct 27, 2010·Parkinson's Disease·Maria Livia FantiniLuigi Ferini-Strambi
Jun 6, 2003·Seminars in Pediatric Neurology·Ergun Y Uc, Robert L Rodnitzky
Dec 30, 2014·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Lázaro L F AmaralAsim K Bag
Mar 26, 2002·Brain : a Journal of Neurology·Andrea H Németh
Mar 25, 2014·Journal of the Neurological Sciences·George A TantelesKleopas A Kleopa

❮ Previous
Next ❯

Related Concepts

Related Feeds

CSF & Lymphatic System

This feed focuses on Cerebral Spinal Fluid (CSF) and the lymphatic system. Discover the latest papers using imaging techniques to track CSF outflow into the lymphatic system in animal models.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Basal ganglia in Parkinson's disease (MDS)

The basal ganglia is comprised of the neostriatum, the external and internal pallidal segments, the subthalamic nucleus, the substantia nigra pars reticulata, and the pars compacta of the substantia nigra. The basal ganglia circuitry is responsible for the correct execution of voluntary movements and is implicated in Parkinson's disease. Here is the latest research investigating the basal ganglia in Parkinson's disease.