scholarly journals Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

1998 ◽  
Vol 62 (3) ◽  
pp. 633-640 ◽  
Author(s):  
Phillip F. Chance ◽  
Bruce A. Rabin ◽  
Stephen G. Ryan ◽  
Yuan Ding ◽  
Mena Scavina ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Autosomal Dominant ◽  
Dominant Form ◽  
Chromosome 9Q34 ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Autosomal Dominant Form ◽  
Lateral Sclerosis

scholarly journals Autosomal dominant juvenile amyotrophic lateral sclerosis

Brain ◽  
1999 ◽  
Vol 122 (8) ◽  
pp. 1539-1550 ◽  
Author(s):  
Bruce A. Rabin ◽  
John W. Griffin ◽  
Barbara J. Crain ◽  
Mena Scavina ◽  
Philip F. Chance ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Autosomal Dominant ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

CADASIL Syndrome: A Genetic Form of Vascular Dementia

1998 ◽  
Vol 11 (2) ◽  
pp. 71-77 ◽  
Author(s):  
Stephen Salloway ◽  
Joseph Hong
Keyword(s):  
Vascular Dementia ◽  
Autosomal Dominant ◽  
Microvascular Disease ◽  
The Elderly ◽  
Dominant Form ◽  
Genetic Features ◽  
Autosomal Dominant Form ◽  
Family Gene ◽  
Cerebral Arteriopathy ◽  
Genetic Form

Mental disorders due to cerebral microvascular disease have been known for over 100 years. Recently, an autosomal dominant form of cerebral arteriopathy (CADASIL) has been described in association with a Notch3 family gene on the short arm of chromosome 19. CADASIL causes subcortical lacunar infarction and dementia in over 80% of cases and depression in a large proportion of patients. Clinically, CADASIL may appear to be very similar to hypertensive microvascular disease (Binswanger's disease), a condition that is seen in the elderly. This article reviews the clinical, pathologic, and genetic features of CADASIL. CADASIL is of interest to neurologists and psychiatrists because it is the first syndrome of vascular dementia and depression with an identified gene. How the gene causes the widespread arteriopathy is not yet known. Insights gained from the study of CADASIL should help us better understand its etiology, as well as the options for treatment of the more common forms of microvascular disease seen in the elderly.

HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)

Brain ◽  
1990 ◽  
Vol 113 (2) ◽  
pp. 347-363 ◽  
Author(s):  
MONGI BEN HAMIDA ◽  
FAYÇAL HENTATI ◽  
CHRISTIANE BEN HAMIDA
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor System ◽  
Hereditary Motor ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Copy number variation in MODY diabetes - Familial case presentation

2018 ◽  
Vol 2 (2) ◽  
pp. 73
Author(s):  
Naida Lojo-Kadric ◽  
Zelija Velija Asimi ◽  
Jasmin Ramic ◽  
Ksenija Radic ◽  
Lejla Pojskic
Keyword(s):  
Insulin Secretion ◽  
Copy Number ◽  
Autosomal Dominant ◽  
Single Gene ◽  
Maturity Onset Diabetes ◽  
Dominant Form ◽  
Case Presentation ◽  
Monogenic Diseases ◽  
Number Variation ◽  
Autosomal Dominant Form

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.

scholarly journals A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension

2000 ◽  
Vol 67 (2) ◽  
pp. 302-310 ◽  
Author(s):  
Sandra Disse-Nicodème ◽  
Jean-Michel Achard ◽  
Isabelle Desitter ◽  
Anne-Marie Houot ◽  
Albert Fournier ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Type Ii ◽  
Dominant Form ◽  
Pseudohypoaldosteronism Type Ii ◽  
Autosomal Dominant Form ◽  
Pseudohypoaldosteronism Type
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