The Multiple Forms of Neurofibromatosis

1982 ◽  
Vol 3 (9) ◽  
pp. 293-298
Author(s):  
Vincent M. Riccardi
Keyword(s):  
First Year ◽  
Multiple Forms ◽  
Tay Sachs Disease ◽  
Marked Variability ◽  
Heritable Disorder ◽  
Basic Biology ◽  
Self Help Groups ◽  
Almost All ◽  
First Year Of Life ◽  
Huntington Chorea

Von Recklinghausen neurofibromatosis (NF)1 has multiple forms in several senses. First, there is the matter of heterogeneity: There is more than one disease designated by the term NF, for example "classical" NF as originally described by Von Recklinghausen2 and "acoustic" NF characterized by bilateral acoustic neunomas.3,4 Second, there is the matter of marked variability in the overall severity and progression of classical NF, the disorder to be considered in this review. NF can cause serious problems, and even death in the newborn period,5 or be associated with only a relatively mild or modest burden into the seventh decade and beyond. In almost all patients NF becomes obvious in the first year of life and some form of specific problems or compromise develops before age 20 years. NF is a heritable disorder, with a frequency of 1 in 3,000.6 This means it affects at least 80,000 Americans, making it much more common than is ordinarily supposed. Indeed, it is more common than Huntington chorea, Duchenne muscular dystrophy, and Tay-Sachs disease combined.4 However, in spite of its commonness,6-10 a realistic appreciation of NF's importance for pediatrics, and for medical care and research in general, is only a recent development. This long overdue change in emphasis reflects a recognition that NF's pathogenesis has bearing on a number of issues in basic biology, including neural crest embryology and genetic influences on the origin of cancer,1 the establishment of several NF clinical research programs, and the activities of several NF patient self-help groups.

Advances in Medical Genetics: Huntington Disease

1987 ◽  
Vol 9 (1) ◽  
pp. 13-14
Author(s):  
Frederick Hecht
Keyword(s):  
Molecular Genetics ◽  
Huntington Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
The United States ◽  
Medical Genetics ◽  
Clinical Signs And Symptoms ◽  
Huntington Chorea

Medical genetics is currently enjoying a time of exploration and discovery. Huntington disease has long been of interest in adult medicine. The onset of clinical signs and symptoms is usually delayed until midadulthood. It may seem strange in this context to focus on Huntington disease, but advances in molecular genetics have brought Huntington disease into the purview of pediatrics. These advances in molecular genetics make it possible to detect Huntington disease in a preclinical stage at or even before birth. The molecular approach does not replace prior approaches to Huntington disease but is synergistic and provides a model of the new genetics. Huntington disease is synonymous with Huntington chorea. It is named after George Huntington who, like his father and grandfather before him, studied the disease in families on Long Island, NY. Huntington disease is a more common hereditary disorder than phenylketonuria, which occurs in one of about 10,000 newborns in the United States. By contrast, about one in 2,000 persons is at risk for Huntington disease. Although most cases start clinically in midadulthood, usually between 35 and 42 years of age, there is great variability in age of onset. About 3% of cases are diagnosed as juvenile Huntington disease before the age of 15 years. Late onset is well known after 50 years of age.

Zytotoxische Antikörper gegen menschliche Neuroblastomzellen im Serum von Patienten mit Huntington-Chorea

1986 ◽  
pp. 263-267
Author(s):  
T. Kulow ◽  
I. Lücht-Eisenbach ◽  
H. Lange ◽  
M. Halbach
Keyword(s):  
Huntington Chorea

Early-onset Huntington chorea

1995 ◽  
Vol 154 (9) ◽  
pp. 752-753 ◽  
Author(s):  
Uğur Karagöl ◽  
Gülhis Deda ◽  
Şenay Kükner ◽  
Erdal İnce
Keyword(s):  
Early Onset ◽  
Huntington Chorea

scholarly journals Huntington Chorea Presenting With Motor Neuron Disease

2011 ◽  
Vol 68 (5) ◽  
Author(s):  
Hamid Sadeghian ◽  
Padraig E. O’Suilleabhain ◽  
James Battiste ◽  
Jeffrey L. Elliott ◽  
Jaya R. Trivedi
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Huntington Chorea

Effects of bromocrhtine in Huntington chorea case report

1994 ◽  
Vol 18 (4) ◽  
pp. 823-829 ◽  
Author(s):  
Tsuneizumi Tomohiro ◽  
Anai Kiriko ◽  
Aoba Anri ◽  
Yamaguchi Noboru ◽  
Takagi Hiroyuki ◽  
...  
Keyword(s):  
Case Report ◽  
Huntington Chorea
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