• syndrome
  • The disease could be caused by an abnormality on an autosome, as is the case with Down's syndrome. (wisegeek.com)
  • HDL2 is the commonest HD-like syndrome and is caused by GTC/CAG triplet expansions in the JPH3 gene encoding junctophilin-3. (wikipedia.org)
  • Bassen-Kornzweig disease, or Bassen-Kornzweig Syndrome (see also History). (wikipedia.org)
  • It is also known as Haw River Syndrome and Naito-Oyanagi disease. (wikipedia.org)
  • Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome, are usually fatal in males either in utero or shortly after birth, and are therefore predominantly seen in females. (wikipedia.org)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. (wikipedia.org)
  • This gene is also known as NK2 homeobox 1 (NKX2-1) In some cases, additional developmental abnormalities of lung and thyroid tissue are found in BHC, leading to the suggested alternative name brain-lung-thyroid syndrome. (wikipedia.org)
  • While there, she was part of the team that identified the fragile-X syndrome gene. (wikipedia.org)
  • At this point, there are from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome in these patients, as compared with 60 to 230 repeats in carriers and 5 to 54 repeats in unaffected individuals. (wikipedia.org)
  • carriers
  • Carriers of the recessive gene are considered to be heterozygous, meaning they have only one allele of each of the dominant and recessive alleles. (reference.com)
  • In this pattern, people with one working copy of the gene and one copy of the gene that does not function correctly are called carriers . (genesinlife.org)
  • Carriers do not have any signs or symptoms of the condition, but they can still pass on the gene that does not function properly to their children. (genesinlife.org)
  • Usually, parents of children with an autosomal recessive condition are carriers. (genesinlife.org)
  • Because it takes two copies of a trait to display a trait, many people can unknowingly be carriers of a disease. (wikipedia.org)
  • Sickle-cell anemia is also considered a recessive condition, but heterozygous carriers have increased resistance to malaria in early childhood, which could be described as a related dominant condition. (wikipedia.org)
  • An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). (wikipedia.org)
  • In one family, carriers of the autosomal dominant phenotype sleep 6.25 hours compared to non-carrying family members, who sleep more than 8 hours per night. (wikipedia.org)
  • disorders
  • Neurodegenerative diseases are a heterogenous group of complex disorders linked by the degeneration of neurons in either the peripheral nervous system or the central nervous system. (wikipedia.org)
  • Genetic disorders may be hereditary, passed down from the parents' genes. (wikipedia.org)
  • Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present. (wikipedia.org)
  • PGD became increasingly popular during the 1990s when it was used to determine a handful of severe genetic disorders, such as sickle-cell anemia, Tay Sachs disease, Duchenne's muscular dystrophy, and beta-thalassemia. (wikipedia.org)
  • citation needed] There are five typical autosomal-recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia. (wikipedia.org)
  • citation needed] There are numerous types of autosomal-dominant cerebellar ataxias There are five typical autosomal recessive disorders in which ataxia is a prominent feature A few SCAs remain unspecified and can not be precisely diagnosed, but in the last decade genetic testing has allowed precise identification of dozens of different SCAs and more tests are being added each year. (wikipedia.org)
  • mitochondrial
  • This gene encodes a transcriptional coactivator that induces and coordinates gene expression regulating mitochondrial biogenesis, respiration, hepatic gluconeogenesis, thermogenic program in brown fat and muscle fiber-type switching. (nih.gov)
  • Some cases of mitochondrial disease. (wikipedia.org)
  • dementia
  • These diseases are characterized by chronic and progressive neuronal dysfunction, sometimes leading to behavioral abnormalities (as with PD), and, ultimately, neuronal death, resulting in dementia. (wikipedia.org)
  • polyQ
  • A common symptom of PolyQ diseases is characterized by a progressive degeneration of nerve cells usually affecting people later in life. (wikipedia.org)
  • citation needed] The non-PolyQ diseases do not share any specific symptoms and are unlike the PolyQ diseases. (wikipedia.org)
  • generations
  • Within a family, multiple generations may have inherited the disease. (hdsa.org)
  • Family studies have also suggested that these diseases are associated with anticipation, the tendency for progressively earlier or more severe expression of the disease in successive generations. (wikipedia.org)
  • SCA1
  • Research to develop treatments is ongoing and in addition to conventional pharmaceutical treatment, SCA1 has been the subject of such high technology treatment as gene therapy and stem cell therapy. (wikipedia.org)
  • Ataxia refers to a lack of coordinated muscle movements that include gait abnormality and is the cerebellar sign that typifies all SCA types, though individuals with SCA1 also develop pyramidal and bulbar signs as the disease progresses. (wikipedia.org)
  • exon
  • Briefly, a 288 bp fragment of the 5'UTR of the FTL gene (using sense 6-Fam labeled primer 5'-TCCTGCCACCGCAGATTGG-3' and antisense primer 5'-TTGGCAAGAAGGAGCTAAC-3') was co-amplified by PCR with two additional fragments corresponding to exon 5 of the HFE gene (Ref1) and to exon 6 of the F7 gene (Ref2) as controls. (haematologica.org)