Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

Filla, Alessandro; Michele, Giuseppe De; Campanella, G; Perretti, A.; Santoro, Lucio; Serlenga, L; Ragno, Michele; Calabrese, Olga; Castaldo, Imma; Joanna, Gabriella De; Cocozza, Sérgio

doi:10.1016/0022-510x(96)00177-3

Cited by 35 publications

(25 citation statements)

References 24 publications

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“…Concerning the clinical features of our families, most of the findings are in agreement with those reported in the literature [5, 16, 22, 45, 46]. …”

Section: Discussionsupporting

confidence: 91%

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Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

Filla

Mariotti²,

Caruso

et al. 2000

Eur Neurol

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Two hundred and forty-eight patients from 116 Italian families with dominant ataxia were studied for CAG expansion within SCA1, 2, 3, 6, 7 (spinocerebellar ataxia) and DRPLA (dentatorubropallidoluysian atrophy) genes. Fifty-six percent of the families originated from Southern, 19% from Central and 25% from Northern Italy. SCA2 was the commonest mutation, accounting for 47% of the families, followed by SCA1 (24%), SCA6 (2%), SCA7 (2%) and DRPLA (1%). No SCA3 family was found. Twenty-four percent of the families carried a still unidentified mutation. When occurrence of mutations was evaluated according to the geographic origin, SCA1 was the commonest in Northern (72%), whereas SCA2 was prevalent (63%) in Southern Italy. The number of CAG repeats in SCA1 normal alleles was higher in Northern than in Central-Southern Italy.

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“…Concerning the clinical features of our families, most of the findings are in agreement with those reported in the literature [5, 16, 22, 45, 46]. …”

Section: Discussionsupporting

confidence: 91%

“…Most patients develop the disease between the third and the fifth decade, and about 10% before 20 years of age [1, 2, 3, 4, 5]. The prevalence ratio is about 1 per 100,000 in the Mediterranean area [6, 7, 8], and higher ratios in some areas could be explained by a strong founder effect.…”

Section: Introductionmentioning

confidence: 99%

Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

Filla

Mariotti²,

Caruso

et al. 2000

Eur Neurol

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“…Until now, few population-based surveys have been reported on the incidence or prevalence indexes of these degenerative diseases [4][5][6][7][8][9]. Conversely, many studies are available on the relative frequency of the different forms of these disorders, as estimated among the patients diagnosed at the referral diagnostic centers [24][25][26][27][28][29][30][31][32][33][34].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Inherited Ataxias in the Province of Padua, Italy

Zortea

Armani²,

Pastorello³

et al. 2004

Neuroepidemiology

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Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation on the prevalence rate of these movement disorders is in progress for the Veneto region, the main area of northeast Italy with a population of 4,490,586 inhabitants. The first results of this epidemiological survey concern the province of Padua, which numbers 845,203 residents (January 1, 2002). The prevalence rate of inherited ataxias has been estimated at 93.3 cases per million inhabitants. The most common types appeared to be the autosomal dominant forms, namely spinocerebellar ataxia type 1 and 2, with a prevalence of 24 per 1,000,000. In the same population, with a prevalence rate of 6 per 1,000,000, Friedreich’s ataxia was defined as the prominent recessive autosomal form. There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease.

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“…Before gene identification, on the basis of previously reported families, it was suggested that ataxia, ophthalmoparesis and peripheral sensory neuropathy were the cardinal features of the SCA2 phenotype [10][11][12] In a recent review on 32 SCA families with CAG expansion, Cancel et al [13] reported that dysphagia, facial myokimias, sphincter disturbances, tremor and fasciculations are additional symptoms present in more than 20% of patients. This clinical picture differs from that of other SCA syndromes by the paucity of clear pyramidal and extrapyramidal signs, even though extensor plantar response and involuntary movement have sometimes been reported [10][11][12][13][14]. Geschwind et al [15] found high incidence of chorea in a series of six SCA2 families.…”

Section: Discussionmentioning

confidence: 99%

“…With respect to the Italian family reported by Filla et al [10], we found earlier onset, a more rapid course, and constant mental deterioration, the latter of which we propose as a possible feature of the disease. Cognitive impairment is frequently encountered in other forms of SCA syndrome, but it has rarely been reported in SCA2 [10][11][12][13][14]. In a SCA2 pedigree of southern Italian ancestry, Adams et al [16] reported a phenotype characterized by gait and appendicular ataxia, dysarthria and slow saccades.…”

Section: Discussionmentioning

confidence: 99%

CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study

Malandrini

Galli²,

Villanova³

et al. 1998

Eur Neurol

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We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats.

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Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

Cited by 35 publications

References 24 publications

Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

Prevalence of Inherited Ataxias in the Province of Padua, Italy

CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study

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