The search for cerebral biomarkers of Huntington's disease: a review of genetic models of age at onset prediction
The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5′ translated region of the gene. The mutation penetrance varies widely and depends on the CAG expansion length, the low pathological triplet range (36–41) showing a very low penetrance, po...
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| Published in | European journal of neurology Vol. 13; no. 4; pp. 408 - 415 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.04.2006
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1351-5101 1468-1331 |
| DOI | 10.1111/j.1468-1331.2006.01264.x |
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| Abstract | The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5′ translated region of the gene. The mutation penetrance varies widely and depends on the CAG expansion length, the low pathological triplet range (36–41) showing a very low penetrance, possibly associated with late ages at onset. No research has so far yielded biomarkers for accurately predicting either age at onset or disease progression in at risk individuals. Specific markers able to follow‐up mutation carrier subjects from the pre‐symptomatic stages of life are crucial for testing experimental neuroprotective preventive therapies. Nevertheless, the factor accounting for the largest percentage of age at onset variation is the expanded repeat number within the gene. Over the years, this factor has helped in setting up models for genetically predicting age at onset. Once available for practical application in clinics, such models allowed phenotype‐genotype correlations that were hitherto inconceivable. In this review, we discuss how these genetic models have been applied in clinical practice and comment on their potential value in searching for cerebral biomarkers of disease onset and severity and in designing trials of therapeutic drugs. |
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| AbstractList | The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5' translated region of the gene. The mutation penetrance varies widely and depends on the CAG expansion length, the low pathological triplet range (36-41) showing a very low penetrance, possibly associated with late ages at onset. No research has so far yielded biomarkers for accurately predicting either age at onset or disease progression in at risk individuals. Specific markers able to follow-up mutation carrier subjects from the pre-symptomatic stages of life are crucial for testing experimental neuroprotective preventive therapies. Nevertheless, the factor accounting for the largest percentage of age at onset variation is the expanded repeat number within the gene. Over the years, this factor has helped in setting up models for genetically predicting age at onset. Once available for practical application in clinics, such models allowed phenotype-genotype correlations that were hitherto inconceivable. In this review, we discuss how these genetic models have been applied in clinical practice and comment on their potential value in searching for cerebral biomarkers of disease onset and severity and in designing trials of therapeutic drugs.The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5' translated region of the gene. The mutation penetrance varies widely and depends on the CAG expansion length, the low pathological triplet range (36-41) showing a very low penetrance, possibly associated with late ages at onset. No research has so far yielded biomarkers for accurately predicting either age at onset or disease progression in at risk individuals. Specific markers able to follow-up mutation carrier subjects from the pre-symptomatic stages of life are crucial for testing experimental neuroprotective preventive therapies. Nevertheless, the factor accounting for the largest percentage of age at onset variation is the expanded repeat number within the gene. Over the years, this factor has helped in setting up models for genetically predicting age at onset. Once available for practical application in clinics, such models allowed phenotype-genotype correlations that were hitherto inconceivable. In this review, we discuss how these genetic models have been applied in clinical practice and comment on their potential value in searching for cerebral biomarkers of disease onset and severity and in designing trials of therapeutic drugs. The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5' translated region of the gene. The mutation penetrance varies widely and depends on the CAG expansion length, the low pathological triplet range (36-41) showing a very low penetrance, possibly associated with late ages at onset. No research has so far yielded biomarkers for accurately predicting either age at onset or disease progression in at risk individuals. Specific markers able to follow-up mutation carrier subjects from the pre-symptomatic stages of life are crucial for testing experimental neuroprotective preventive therapies. Nevertheless, the factor accounting for the largest percentage of age at onset variation is the expanded repeat number within the gene. Over the years, this factor has helped in setting up models for genetically predicting age at onset. Once available for practical application in clinics, such models allowed phenotype-genotype correlations that were hitherto inconceivable. In this review, we discuss how these genetic models have been applied in clinical practice and comment on their potential value in searching for cerebral biomarkers of disease onset and severity and in designing trials of therapeutic drugs. |
| Author | Squitieri, F. Di Donato, S. Ciarmiello, A. Frati, L. |
| Author_xml | – sequence: 1 givenname: F. surname: Squitieri fullname: Squitieri, F. organization: Neurogenetics Unit, IRCCS Neuromed, Pozzilli (IS), Italy – sequence: 2 givenname: A. surname: Ciarmiello fullname: Ciarmiello, A. organization: Nuclear Medicine Unit, IRCCS Pascale, Naples, Italy – sequence: 3 givenname: S. surname: Di Donato fullname: Di Donato, S. organization: Division of Biochemistry and Genetics, IRCCS Besta, Milan, Italy – sequence: 4 givenname: L. surname: Frati fullname: Frati, L. organization: Neurogenetics Unit, IRCCS Neuromed, Pozzilli (IS), Italy |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/16643321$$D View this record in MEDLINE/PubMed |
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In vivo evidence of cerebe 2004; 66 1994; 330 2004; 63 1986; 36 2002; 55 1999; 122 2000a; 58 1997; 6 1993; 2 1992; 12 1983; 13 1993; 4 1993; 5 2001; 105 1994; 344 1990; 85 2004; 374 2001; 60 2004; 125B 1997; 94 1993; 72 1997; 10 1984; 15 2000; 57 2000b; 95 1993; 30 2003c; 10 1994; 36 1999; 53 2003; 126 2001; 56 2001; 57 1998; 55 2003a; 24 2001; 98 2004; 101 2004; 44 1995; 52 1997; 60 1995; 57 2000; 66 2004; 45 1995; 10 1994; 44 1999; 66 1999; 64 2002 1999; 8 2001; 22 1995; 2 1995; 4 1996; 59 1998; 64 2004; 55 2003d; 64 2003b; 126 1998; 39 2002; 23 2002; 125 2004; 15 1999; 36 2005; 6 2000; 101 2003; 60 1994; 3 1996; 119 1994; 7 e_1_2_8_28_2 e_1_2_8_49_2 e_1_2_8_24_2 e_1_2_8_45_2 e_1_2_8_47_2 e_1_2_8_68_2 Langbehn DR (e_1_2_8_26_2) 2004; 66 e_1_2_8_3_2 e_1_2_8_5_2 e_1_2_8_7_2 e_1_2_8_41_2 e_1_2_8_66_2 e_1_2_8_22_2 e_1_2_8_43_2 e_1_2_8_64_2 e_1_2_8_62_2 The Huntington's Disease Collaborative Group (e_1_2_8_9_2) 1993; 72 e_1_2_8_60_2 e_1_2_8_17_2 e_1_2_8_38_2 e_1_2_8_19_2 e_1_2_8_13_2 e_1_2_8_34_2 e_1_2_8_59_2 e_1_2_8_15_2 e_1_2_8_57_2 Brinkman RR (e_1_2_8_23_2) 1997; 60 Quarantelli M (e_1_2_8_72_2) 2004; 45 e_1_2_8_30_2 e_1_2_8_55_2 e_1_2_8_32_2 e_1_2_8_53_2 e_1_2_8_51_2 Ranen NG (e_1_2_8_70_2) 1995; 57 e_1_2_8_27_2 e_1_2_8_29_2 e_1_2_8_46_2 e_1_2_8_69_2 e_1_2_8_25_2 e_1_2_8_48_2 e_1_2_8_67_2 e_1_2_8_2_2 e_1_2_8_4_2 e_1_2_8_6_2 e_1_2_8_8_2 e_1_2_8_42_2 e_1_2_8_65_2 e_1_2_8_21_2 e_1_2_8_44_2 e_1_2_8_63_2 e_1_2_8_61_2 e_1_2_8_40_2 Kehoe P (e_1_2_8_36_2) 1999; 36 e_1_2_8_16_2 e_1_2_8_39_2 e_1_2_8_18_2 e_1_2_8_12_2 e_1_2_8_35_2 e_1_2_8_58_2 e_1_2_8_14_2 Benjamin CM (e_1_2_8_20_2) 2002; 55 e_1_2_8_37_2 e_1_2_8_56_2 Rubinsztein DC (e_1_2_8_11_2) 1996; 59 Rousset OG (e_1_2_8_74_2) 1998; 39 e_1_2_8_31_2 e_1_2_8_54_2 e_1_2_8_10_2 e_1_2_8_33_2 e_1_2_8_52_2 e_1_2_8_75_2 e_1_2_8_50_2 e_1_2_8_73_2 e_1_2_8_71_2 |
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| Snippet | The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5′ translated region of the gene. The mutation... The mutation causing Huntington's disease is an expanded CAG trinucleotide repeat number beyond 35 in the 5' translated region of the gene. The mutation... |
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| SubjectTerms | Adult age at onset Age of Onset Biomarkers Disease Progression Female Humans Huntington Disease - genetics Male Middle Aged Models, Genetic onset prediction models Pedigree positron emission tomography predictive testing |
| Title | The search for cerebral biomarkers of Huntington's disease: a review of genetic models of age at onset prediction |
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