Search

Your search keyword '"Frontali, M."' showing total 334 results
Start Over Author "Frontali, M."
334 results on '"Frontali, M."'

101. Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study

Author

Zinzi, P, Salmaso, D, De Grandis, R, Graziani, G, Maceroni, S, Bentivoglio, Anna Rita, Zappata, P, Frontali, M, Jacopini, G., Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Zinzi, P, Salmaso, D, De Grandis, R, Graziani, G, Maceroni, S, Bentivoglio, Anna Rita, Zappata, P, Frontali, M, Jacopini, G., and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

To investigate the effects of an intensive, inpatient rehabilitation programme on individuals affected by Huntington's disease.

Published
2007

102. 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

Author

Rubinsztein, D, Leggo, J, Coles, R, Almqvist, E, Biancalana, V, Cassiman, J, Chotai, K, Connarty, M, Crauford, D, Curtis, A, Curtis, D, Davidson, M, Differ, A, Dode, C, Dodge, A, Frontali, M, Ranen, N, Stine, O, Sherr, M, Abbott, M, Franz, M, Graham, C, Harper, P, Hedreen, J, Jackson-Crawford, Anthony, Kaplan, Jean-Claude, Losekoot, Monique, Macmillan, John, Morrison, Patrick, Trottier, Yvon, Novelletto, Andrea, Simpson, Sheila A, Theilmann, Jane, Whittaker, Joanne, Folstein, Susan E., Ross, Christopher A., Hayden, M, Addenbrooke's Hospital, Cambridge University NHS Trust, Karolinska Institutet [Stockholm], Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Northwick Park Hospital [Harrow, UK] (NPH), Salisbury District Hospital, St Mary's Hospital [London], University of Newcastle, Newcastle upon Tyne, UK, Department of Molecular Biology and Biotechnology, University of Sheffield, University of Aberdeen Medical School, Guy's Hospital [London], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Johns Hopkins University School of Medicine [Baltimore], Johns Hopkins University (JHU), Belfast City Hospital, University of Wales College of Medicine, Tufts New England Medical Center, Leiden University, Università degli Studi di Roma Tor Vergata [Roma], Aberdeen University Medical School, University of British Columbia (UBC), Universiteit Leiden [Leiden], and Peney, Maité

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Trinucleotide Repeats, MESH: Mutation, INSTABILITY, [SDV.GEN] Life Sciences [q-bio]/Genetics, Minisatellite Repeats, MESH: Phenotype, Polymerase Chain Reaction, FAMILIES, MESH: Aged, 80 and over, Trinucleotide Repeats, CHROMOSOMES, Reference Values, LENGTH, Humans, POPULATION, Aged, Aged, 80 and over, MESH: Aged, [SDV.GEN]Life Sciences [q-bio]/Genetics, AGE-OF-ONSET, TRINUCLEOTIDE REPEAT, CLINICAL-FEATURES, POLYMORPHISM, EXPANSIONS, MESH: Middle Aged, MESH: Humans, MESH: Reference Values, MESH: Adult, MESH: Polymerase Chain Reaction, Original Articles, Middle Aged, MESH: Male, MESH: Huntington Disease, Settore BIO/18 - Genetica, Huntington Disease, Phenotype, Mutation, MESH: Minisatellite Repeats, Female, MESH: Female
Abstract

International audience; Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD). In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal and HD-associated chromosomes. Most large analyses that defined the limits of the normal and pathological size ranges employed PCR assays, which included the CAG repeats and a CCG repeat tract that was thought to be invariant. Many of these experiments found an overlap between the normal and disease size ranges. Subsequent findings that the CCG repeats vary by 8 trinucleotide lengths suggested that the limits of the normal and disease size ranges should be reevaluated with assays that exclude the CCG polymorphism. Since patients with between 30 and 40 repeats are rare, a consortium was assembled to collect such individuals. All 178 samples were reanalyzed in Cambridge by using assays specific for the CAG repeats. We have optimized methods for reliable sizing of CAG repeats and show cases that demonstrate the dangers of using PCR assays that include both the CAG and CCG polymorphisms. Seven HD patients had 36 repeats, which confirms that this allele is associated with disease. Individuals without apparent symptoms or signs of HD were found at 36 repeats (aged 74, 78, 79, and 87 years), 37 repeats (aged 69 years), 38 repeats (aged 69 and 90 years), and 39 repeats (aged 67, 90, and 95 years). The detailed case histories of an exceptional case from this series will be presented: a 95-year-old man with 39 repeats who did not have classical features of HD. The apparently healthy survival into old age of some individuals with 36-39 repeats suggests that the HD mutation may not always be fully penetrant.

Published
1996

103. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I

Author

Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Paola Giunti, Morocutti, C., Terrenato, L., Harding, Ae, and Frontali, M.

Subjects
Adult, Male, Parents, Polymorphism, Genetic, Base Sequence, Molecular Sequence Data, Middle Aged, Phenotype, Sex Factors, Oligodeoxyribonucleotides, Humans, Female, Research Article, Repetitive Sequences, Nucleic Acid, Spinocerebellar Degenerations
Abstract

Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent plays a major role in the size distribution of expanded alleles, those with > 54 repeats being transmitted by affected fathers exclusively. Our data suggest that alleles with > 54 repeats have a reduced chance of survival; these appear to be replaced in each generation by further expansion of alleles in the low- to medium-expanded repeat range, preferentially in male transmissions. Detailed clinical follow-up of a subset of our patients demonstrates significant relationships between increasing repeat number on expanded chromosomes and earlier age at onset, faster progression of the disease, and earlier age at death.

Published
1994

107. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

Author

Kwiatkowski Jr, T. J., Orr, H. T., Banfi, S., Mccall, A. E., Jodice, C., Francesca Persichetti, Novelletto, A., Leborgne-Demarquoy, F., Duvick, L. A., Frontali, M., Subramony, S. H., Beaudet, A. L., Terrenato, L., Zoghbi, H. Y., and Ranum, L. P. W.

Subjects
Settore BIO/18 - Genetica, Settore MED/03 - Genetica Medica
Published
1993

110. Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-ervical or upper limb onset.

Author

Valente, Em, Bentivoglio, Anna Rita, Cassetta, E, Dixon, Ph, Davis, Mb, Ferraris, A, Ialongo, Tamara, Frontali, M, Wood, Nw, Albanese, Alberto, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Albanese, Alberto (ORCID:0000-0002-5864-0006), Valente, Em, Bentivoglio, Anna Rita, Cassetta, E, Dixon, Ph, Davis, Mb, Ferraris, A, Ialongo, Tamara, Frontali, M, Wood, Nw, Albanese, Alberto, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), and Albanese, Alberto (ORCID:0000-0002-5864-0006)

Abstract

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion. Three PTD loci (DYT1, DYT6 and DYT7) have been identified to date. However, in several PTD families linkage to the known loci has been excluded. We identified an Italian PTD family with 11 definitely affected members. Phenotype was characterised by juvenile or early-adult onset, prominent cranial-cervical and upper limb involvement, mild course and occasional generalisation. A genome- wide search performed in the family identified a novel PTD locus (DYT13) within a 22-cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 (theta = 0) between the disease and marker D1S2667.

Published
2001

111. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in a Italian family with cranial-cervical or upper limb onset.

Author

Valente, Em, Bentivoglio, Anna Rita, Cassetta, E, Dixon, Ph, Davis, Mb, Ferraris, A, Ialongo, Tamara, Frontali, M, Wood, Nw, Albanese, Alberto, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Albanese, Alberto (ORCID:0000-0002-5864-0006), Valente, Em, Bentivoglio, Anna Rita, Cassetta, E, Dixon, Ph, Davis, Mb, Ferraris, A, Ialongo, Tamara, Frontali, M, Wood, Nw, Albanese, Alberto, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), and Albanese, Alberto (ORCID:0000-0002-5864-0006)

Abstract

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion with reduced penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb-onset PTD. Two other PTD loci have been mapped to date. The DYT6 locus on chromosome 8 is associated with a mixed phenotype, whereas the DYT7 locus on chromosome 18p is associated with adult onset focal cervical dystonia Several families have been described in which linkage to the known PTD loci have been excluded. We identified a large Italian PTD family with 11 definitely affected members. Phenotype was characterized by prominent cranial-cervical and upper limb involvement and mild severity. A genome-wide search was performed in the family. Linkage analysis and haplotype construction allowed us to identify a novel PTD locus (DYT13) within a 22 cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 between the disease and marker D1S2667.

Published
2001

116. SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER

Author

Frontali, M, Iodice, C, Lulli, P, Spadaro, M, Cappellacci, S, Giunti, P, Malaspina, P, Morellini, M, Morocutti, C, Novelletto, A, Persichetti, F, Trabace, S, Anastasi, R, and Terrenato, L

Subjects
F13A, HEREDITARY ATAXIA, Settore BIO/18 - Genetica, MULTILOCUS LINKAGE ANALYSIS, HUMAN CHROMOSOME-6, CEREBELLAR-ATAXIA, FACTOR-XIIIA, SHORT ARM, POLYMORPHISM, POPULATION, ONSET
Published
1991

119. 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.

Author

Rubinsztein, D C, Leggo, J, Coles, R, Almqvist, E, Biancalana, V, Cassiman, J J, Chotai, K, Connarty, M, Crauford, D, Curtis, A, Curtis, D, Davidson, M J, Differ, A M, Dode, C, Dodge, A, Frontali, M, Ranen, N G, Stine, O C, Sherr, M, Abbott, M H, Franz, M L, Graham, C A, Harper, P S, Hedreen, J C, Hayden, M R, Rubinsztein, D C, Leggo, J, Coles, R, Almqvist, E, Biancalana, V, Cassiman, J J, Chotai, K, Connarty, M, Crauford, D, Curtis, A, Curtis, D, Davidson, M J, Differ, A M, Dode, C, Dodge, A, Frontali, M, Ranen, N G, Stine, O C, Sherr, M, Abbott, M H, Franz, M L, Graham, C A, Harper, P S, Hedreen, J C, and Hayden, M R

Abstract

Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD). In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal and HD-associated chromosomes. Most large analyses that defined the limits of the normal and pathological size ranges employed PCR assays, which included the CAG repeats and a CCG repeat tract that was thought to be invariant. Many of these experiments found an overlap between the normal and disease size ranges. Subsequent findings that the CCG repeats vary by 8 trinucleotide lengths suggested that the limits of the normal and disease size ranges should be reevaluated with assays that exclude the CCG polymorphism. Since patients with between 30 and 40 repeats are rare, a consortium was assembled to collect such individuals. All 178 samples were reanalyzed in Cambridge by using assays specific for the CAG repeats. We have optimized methods for reliable sizing of CAG repeats and show cases that demonstrate the dangers of using PCR assays that include both the CAG and CCG polymorphisms. Seven HD patients had 36 repeats, which confirms that this allele is associated with disease. Individuals without apparent symptoms or signs of HD were found at 36 repeats (aged 74, 78, 79, and 87 years), 37 repeats (aged 69 years), 38 repeats (aged 69 and 90 years), and 39 repeats (aged 67, 90, and 95 years). The detailed case histories of an exceptional case from this series will be presented: a 95-year-old man with 39 repeats who did not have classical features of HD. The apparently healthy survival into old age of some individuals with 36-39 repeats suggests that the HD mutation may not always be fully penetrant.

Published
1996

121. The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.

Author

Jodice, C, Frontali, M, Persichetti, F, Novelletto, A, Pandolfo, Massimo, Spadaro, M, Giunti, P, Schinaia, G, Lulli, P, Malaspina, P, Jodice, C, Frontali, M, Persichetti, F, Novelletto, A, Pandolfo, Massimo, Spadaro, M, Giunti, P, Schinaia, G, Lulli, P, and Malaspina, P

Abstract

The gene for one form of autosomal dominant spinal cerebellar ataxia (SCA1), is mapped by linkage to chromosome 6p, very close to the microsatellite locus D6S89. Eight large Italian kindreds segregating SCA1, as defined by very close linkage to D6S89, were genotyped with five microsatellite markers linked closely to D6S89, all mapping within a 6 cM interval on 6p. Multipoint linkage analysis and haplotypes from recombinants map SCA1 between two of these markers, D6S274 and D6S259, 5-6 cM apart. A single rare four marker haplotype within this interval shows linkage disequilibrium with the disease locus in southern Italy and is transmitted with SCA1 in five kindreds originating from this area., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Published
1993

123. Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

Author

Jodice, C., primary, Mantuano, E., additional, Veneziano, L., additional, Trettel, F., additional, Sabbadini, G., additional, Calandriello, L., additional, Francia, A., additional, Spadaro, M., additional, Pierelli, F., additional, Salvi, F., additional, Ophoff, R. A., additional, Frants, R. R., additional, and Frontali, M., additional

Published
1997
Full Text
View/download PDF

125. Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

Author

FRONTALI, M., primary, SABBADINI, G., additional, NOVELLETTO, A., additional, JODICE, C., additional, NASO, F., additional, SPADARO, M., additional, GIUNTI, P., additional, JACOPINI, A. G., additional, VENEZIANO, L., additional, MANTUANO, E., additional, MALASPPNA, P., additional, ULIZZI, L., additional, BRICE, A., additional, DURR, A., additional, and TERRENATO, L., additional

Published
1996
Full Text
View/download PDF

129. Trinucleotide repeat length instability and age of onset in Huntington's disease

Author

Duyao, M., primary, Ambrose, C., additional, Myers, R., additional, Novelletto, A., additional, Persichetti, F., additional, Frontali, M., additional, Folstein, S., additional, Ross, C., additional, Franz, M., additional, Abbott, M., additional, Gray, J., additional, Conneally, P., additional, Young, A., additional, Penney, J., additional, Hollingsworth, Z., additional, Shoulson, I., additional, Lazzarini, A., additional, Falek, A., additional, Koroshetz, W., additional, Sax, D., additional, Bird, E., additional, Vonsattel, J., additional, Bonilla, E., additional, Alvir, J., additional, Bickham Conde, J., additional, Cha, J.-H., additional, Dure, L., additional, Gomez, F., additional, Ramos, M., additional, Sanchez-Ramos, J., additional, Snodgrass, S., additional, de Young, M., additional, Wexler, N., additional, Moscowitz, C., additional, Penchaszadeh, G., additional, MacFarlane, H., additional, Anderson, M., additional, Jenkins, B., additional, Srinidhi, J., additional, Barnes, G., additional, Gusella, J., additional, and MacDonald, M., additional

Published
1993
Full Text
View/download PDF

131. AUTOSOMAL DOMINANT PURE CEREBELLAR ATAXIA

Author

FRONTALI, M., primary, SPADARO, M., additional, GIUNTI, P., additional, BIANCO, F., additional, JODICE, C., additional, PERSICHETTI, F., additional, COLAZZA, G. B., additional, LULLI, P., additional, TERRENATO, L., additional, and MOROCUTTI, C., additional

Published
1992
Full Text
View/download PDF

135. Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster

Author

FRONTALI, M., primary, IODICE, C., additional, LULLI, P., additional, SPADARO, M., additional, CAPPELLACCI, S., additional, GIUNTI, P., additional, MALASPINA, P., additional, MORELLINI, M., additional, MOROCUTTI, C., additional, NOVELLETTO, A., additional, PERSICHETTI, F., additional, TRABACE, S., additional, ANASTASI, R., additional, and TERRENATO, L., additional

Published
1991
Full Text
View/download PDF

137. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Author

Lee, J.-M., Ramos, E.M., Lee, J.-H., Gillis, T., Mysore, J.S., Hayden, M.R., Warby, S.C., Morrison, P., Nance, M., Ross, C.A., Margolis, R.L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R.J.A., McCusker, E., Novelletto, A., Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M.H., Hersch, S.M., Rosas, H.D., Lucente, D., Harrison, M.B., Zanko, A., Abramson, R.K., Marder, K., Sequeiros, J., Paulsen, J.S., Landwehrmeyer, G.B., Myers, R.H., MacDonald, M.E., and Gusella, J.F.

Abstract

Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.

Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results