Laboratory Guidelines for Huntington Disease Genetic Testing

Martha A. Nance, Hennepin County Medical Center, Minneapolis (cochair); William Seltzer, Athena Diagnostics, Worcester, Massachusetts (cochair); Tetsuo Ashizawa, Baylor College of Medicine, Houston; Robin Bennett, University of Washington, Seattle; Nathalie McIntosh, DIANON Systems, Stratford, Connecticut; Richard H. Myers, Boston University School of Medicine, Boston; Nicholas T. Potter, University of Tennessee, Knoxville; and David K. Shea, Foundation for the Care and Cure of Huntington Disease, Islamorada, Florida.

[1]  Na Ma.  Huntington disease--another chapter rewritten. , 1996 .

[2]  J. Penney,et al.  Trinucleotide repeat length instability and age of onset in Huntington's disease , 1993, Nature Genetics.

[3]  Shigenobu Nakamura,et al.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 , 1994, Nature Genetics.

[4]  Huda Y. Zoghbi,et al.  Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 , 1993, Nature Genetics.

[5]  William B. Dobyns,et al.  Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel , 1997, Nature Genetics.

[6]  A. Sano,et al.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p , 1994, Nature Genetics.

[7]  M. MacDonald,et al.  Gametic but not somatic instability of CAG repeat length in Huntington's disease. , 1993, Journal of medical genetics.

[8]  K. Fischbeck,et al.  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy , 1991, Nature.

[9]  F. Squitieri,et al.  Proceed with care: direct predictive testing for Huntington disease. , 1994, American journal of human genetics.

[10]  P. Marynen,et al.  Limited Expansion of the (CAG)n Repeat of the Huntington Gene: A Premutation (?) , 1994, European journal of human genetics : EJHG.

[11]  Georg Auburger,et al.  Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 , 1996, Nature Genetics.

[12]  O. Onodera,et al.  Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) , 1994, Nature Genetics.

[13]  B. Kremer,et al.  Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. , 1995, Human molecular genetics.

[14]  S. Tsuji,et al.  Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT , 1996, Nature Genetics.

[15]  S. Warren,et al.  Characterization of the full fragile X syndrome mutation in fetal gametes , 1997, Nature Genetics.

[16]  M. MacDonald,et al.  Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains , 1994, Neurobiology of Disease.

[17]  J. Gusella,et al.  De novo expansion of a (CAG)n repeat in sporadic Huntington's disease , 1993, Nature genetics.

[18]  M. Hayden,et al.  Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm , 1994, Nature Genetics.

[19]  M. Hayden,et al.  The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease , 1993, Nature Genetics.

[20]  D. Sillence,et al.  Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. , 1995, Human molecular genetics.

[21]  Yves Agid,et al.  Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats , 1996, Nature Genetics.

[22]  Paul W Goldberg,et al.  A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. , 1994, The New England journal of medicine.

[23]  D. Brock,et al.  A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. , 1993, Molecular and cellular probes.

[24]  P S Harper,et al.  Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. , 1996, American journal of human genetics.

[25]  H. Lange,et al.  Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. , 1993, Human molecular genetics.

[26]  S. Tavaré,et al.  Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. , 1995, Human molecular genetics.

[27]  G. van den Engh,et al.  Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. , 1997, Human molecular genetics.

[28]  A. Papp,et al.  Southern transfer protocol for confirmation of Huntington disease. , 1996, Clinical chemistry.

[29]  M. MacDonald,et al.  Reduced penetrance of the Huntington's disease mutation. , 1997, Human molecular genetics.

[30]  Manish S. Shah,et al.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes , 1993, Cell.

[31]  M. Hayden,et al.  A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. , 1994, Human molecular genetics.

[32]  M. Hayden,et al.  Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects , 1993, Nature genetics.

[33]  M. Hayden,et al.  Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. , 1995, American journal of human genetics.

[34]  Guidelines for the molecular genetics predictive test in Huntington's disease , 1994, Neurology.