• syndrome
  • Four distinct disorders are usually classified as the "core" neuroacanthocytosis syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). (rarediseases.org)
  • 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)
  • Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN). (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)
  • protein
  • The gene in question is HTT, which codes for a protein called huntingtin. (medicalnewstoday.com)
  • The major cause of HD is the cytotoxicity of the mutant huntingtin protein (mHTT), encoded by the mutant HTT gene. (dovepress.com)
  • Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by CAG expansion in the huntingtin gene, which adds a homopolymeric tract of polyglutamine (polyQ) to the encoded protein leading to the formation of toxic aggregates. (biologists.org)
  • Golgi protein ACBD3 mediates neurotoxicity associated with Huntington's disease. (semanticscholar.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • The huntingtin gene, also called the HTT or HD (Huntington disease) gene, is the IT15 ("interesting transcript 15") gene, which codes for a protein called the huntingtin protein. (wikipedia.org)
  • It is variable in its structure, as the many polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein. (wikipedia.org)
  • Huntington's disease (HD) is caused by a mutated form of the huntingtin gene, where excessive (more than 36) CAG repeats result in formation of an unstable protein. (wikipedia.org)
  • Thus, the likelihood of neuronal death can be predicted by accounting for two factors: (1) the length of CAG repeats in the Huntingtin gene and (2) the neuron's exposure to diffuse intracellular mutant huntingtin protein. (wikipedia.org)
  • Expansion of CAG (cytosine-adenine-guanine) triplet repeats in the gene coding for the Huntingtin protein results in an abnormal protein, which gradually damages cells in the brain, through mechanisms that are not fully understood. (wikipedia.org)
  • The most relevant epigenetic modifications to treatment of neurodegenerative diseases are DNA methylation and histone protein modifications via methylation or acetylation. (wikipedia.org)
  • Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG trinucleotide repeat" disease for either the one-letter designation or codon for glutamine respectively. (wikipedia.org)
  • This expansion results in a larger than normal number of repeats of the nucleotide sequence cytosine, adenine, guanine, or CAG, in the gene which, in turn, results in a larger than normal number of consecutive glutamine residues in the protein. (wikipedia.org)
  • Category I includes Huntington's disease (HD) and the spinocerebellar ataxias that are caused by a CAG repeat expansion in protein-coding portions of specific genes. (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)
  • Chorea
  • Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases. (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)
  • neurons
  • As well, the ability to produce from stem cells the same neurons found in HD may have effects for similar research in other neurodegenerative diseases like Alzheimer´s and Parkinson´s. (redorbit.com)
  • Neurodengenerative diseases of motor neurons can cause degeneration of motor neurons involved in voluntary muscle control such as muscle contraction and relaxation. (wikipedia.org)
  • Neurodegeneration Neurodegenerative diseases of sensory neurons can cause degeneration of sensory neurons involved in transmitting sensory information such as hearing and seeing. (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)
  • severity
  • Relationships between hormone levels and disease severity, including weight-loss severity, were evaluated. (plos.org)
  • Our data suggest that the thyrotropic and in men gonadotropic axes are altered in HD according to the severity of the disease. (plos.org)
  • The size of the repeat correlates with severity of the disease. (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)
  • mutant HTT gene
  • Recently, a team from Emory University School of Medicine in Atlanta, GA, set out to disrupt the mutant HTT gene (mHTT) in a mouse model of Huntington's. (medicalnewstoday.com)
  • Adeno-associated virus delivery to striatum and overlying cortex of the mutant Htt gene, but not the wild type, produced neuropathology and motor deficits. (pnas.org)
  • Lowering mutant Htt gene expression in brain may treat HD. (pnas.org)