Ethel V. Ashton | |
|---|---|
| Born | February 9, 1896 |
| Died | 1961 Sokkelund, København, Denmark. |
| Nationality (legal) | Danish |
| Occupation(s) | Neurologist, researcher, editor |
Knud Haraldsen Krabbe, (1885-1961) a Danish neurologist born 1885 in Frederiksberg, Denmark and died May 8, 1961 in Sokkelund, København, Denmark. [1] was one of the major figures in Nordic neurology.
Education edit
An exceptionally gifted researcher, he publishing his first scientific paper, on a biological topic, at the age of ten. He spoke Greek at the age of three years. Born into a medical family, he entered the medical school of the University of Copenhagen.
Career edit
He was a professor of neurology and chief of the neurological service of the Kommunehospitalet in Copenhagen from 1933 to 1955. He was interested in comparative anatomy and studied the morphogenesis of the brain of submammalian species. He championed the theory that many cerebral haemorrhages were secondary to vascular malformation. Despite being affected by Parkinsonism, Krabbe continued to write articles up to his death at the age of 80 years. (adding his b and d doesnt add to 80???? Knud Krabbe founded the journal Acta psychiatrica et neurologica scandinavica in 1926 and was its editor for almost 30 years. In 1927 he published a textbook of neurology.
Geneology edit
Krabbe was born on March 3, 1885 in Frederiksberg (Copenhagen). Knud was employed as Doctor of Medicine, MD., Chief Physician, and as a Professor at Nervepolikkliniken at Rigshospitalet in Copenhagen. He died on 8 May 1961.
He married Thora Agnete Hindenburg on 9 Oct 1909. Thora Hindenburg was born on February 19, 1883 in Copenhagen. Thora was employed as Master of Laws in Copenhagen.
Children edit
Daughter Edith Crab was born on March 4, 1912. Daughter Ingrid Crab was born on 7 Oct 1913
Krabbe disease edit
Incidence of Krabbe disease edit
It occurs in about one in 100,000 births.[3] A higher incidence, about six in 1,000,[3] has been reported in certain communities in Israel.[4] Scandinavian countries have comparatively high rates of the disease, reported to be one in 50,000 births.[5] Krabbe disease may also be found in cats[6] and in dogs, particularly Westies and Cairn Terriers.[7][8] The disease may also be found in dolphins.
Causes edit
Krabbe disease is caused by mutations in the GALC gene[9] which causes a deficiency of an enzyme called galactosylceramidase.[10] In rare cases it may be caused by a lack of active saposin A.
lipid rafts and may play a role in Krabbe disease.[11][12]
Symptoms and diagnosis edit
Infants are normal at birth. Symptoms begin between the ages of 3 and 6 months. In the first stages of the disease, it is often mistaken for cerebral palsy.[13]
Prognosis and treatment edit
In infants, the disease is fatal before age two. Patients with late-onset Krabbe live significantly longer. No cure for Krabbe disease is known, bone marrow transplantation has been shown to benefit cases early in the course of the disease.[14]
Advocacy edit
Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for Krabbe disease, following the diagnosis of his son, Hunter, in 1997. Hunter Kelly died of the disease on August 5, 2005, at the age of 8.
See also edit
This article incorporates public domain text from the United States National Library of Medicine and the National Institute of Neurological Disorders and Stroke.
External links edit
- Dr. Maria Escolar Speaks about Krabbe Disease - Infantile Krabbe Disease Parent Education Program
- GeneReviews/NCBI/NIH/UW entry on Krabbe disease
- OMIM entries on Krabbe disease
- The Stennis Foundation
- 00174 at CHORUS
- The Hunter's Hope Foundation
- DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment - Study to aid detection and treatment of Krabbe Disease
References edit
- ^ synd/1457 at Who Named It?
- ^ Lee WC, Tsoi YK, Troendle FJ, et al. (August 2007). "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–7. doi:10.1096/fj.06-6169com. PMID 17403939.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b "Krabbe disease". Genetics Home Reference. United States National Library of Medicine. 2008-05-02. Retrieved 2008-05-07.
- ^ http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320210420/abstract
- ^ Books.Google.com
- ^ Salvadori C, Modenato M, Corlazzoli DS, Arispici M, Cantile C (May 2005). "Clinicopathological features of globoid cell leucodystrophy in cats". J. Comp. Pathol. 132 (4): 350–6. doi:10.1016/j.jcpa.2004.12.001. PMID 15893994.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ NYtimes.com
- ^ Capucchio MT, Prunotto M, Lotti D, Valazza A, Galloni M, Dore B, Pregel P, Amedeo S, Catalano D, Cornaglia E, Schiffer D (2008). "Krabbe's disease in two West Highland White terriers". Clin. Neuropathol. 27 (5): 295–301. doi:10.5414/npp27295. PMID 18808060.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Cannizzaro, L.A. (1994). "Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization". Cytogenetic and Genome Research. 66 (4): 244–245. doi:10.1159/000133703.
- ^ http://ghr.nlm.nih.gov/condition/krabbe-disease.
{{cite web}}: External link in|last1=|title=(help); Missing or empty|url=(help) - ^ Lee, Wing; Kang, Dongcheul; Causevic, Ena; Herdt, Aimee; Eckman, Elizabeth; Eckman, Christopher (2010). "Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones". The Journal of Neuroscience. 30 (16): 5489–5497. doi:10.1523/JNEUROSCI.6383-09.2010. PMC 3278277. PMID 20410102.
- ^ White, Adam; Givogri, Maria; Lopez-Rosas, Aurora; Cao, Hongmei; Breemen, Richard van; Thinakaran, Gopal; Bongarzone, Ernesto (2009). "Psychosine Accumulates in Membrane Microdomains in the Brain of Krabbe Patients, Disrupting the Raft Architecture". The Journal of Neuroscience. 29 (19): 6068–6077. doi:10.1523/JNEUROSCI.5597-08.2009. PMID 19439584.
- ^ Hussain, S. A.; Zimmerman, H. H.; Abdul-Rahman, O. A.; Hussaini, S. M.; Parker, C. C.; Khan, M. (May 2011). "Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective". Journal of Child Neurology. 26 (5): 642–644. doi:10.1177/0883073810387929. PMID 21285037.
- ^ Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J (2005). "Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease". New England Journal of Medicine. 352 (20): 2069–2081. doi:10.1056/NEJMoa042604. ISSN 0028-4793. OCLC 206940639. PMID 15901860. BL Shelfmark 6084.000000.
{{cite journal}}: CS1 maint: multiple names: authors list (link)