Prevalence of Inherited Ataxias in the Province of Padua, Italy

Zortea, Michela; Armani, Mario; Pastorello, Ebe; Núñez, Gabriel González; Lombardi, Stefania; Tonello, Simone; Rigoni, Maria Teresa; Zuliani, Luigi; Mostacciuolo, Maria Luisa; Gellera, Cinzia; Donato, S. Di; Trevisan, Carlo P.

doi:10.1159/000080092

Cited by 44 publications

(29 citation statements)

References 85 publications

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“…In the meta-analysis of the subgroups, 9 studies were included for AD-HCA, 7 for AR-HCA, 8 for AD-HSP and 6 for AR-HSP. The reasons for exclusion were: subgroup prevalence values not ascertainable from the data [4,22,26,27,28,29]; >25% of unclassified patients (61% [30] and 57% [31]); data from populations with more recent studies [4,27]; and regional prevalence study from a country were national prevalence data were available [24]. …”

Section: Resultsmentioning

confidence: 99%

“…table 1). Some studies report a high number of unclassified patients (61% [30] and 57% [31]), an in two recent publications, the patients were not classified at all [28,29]. …”

Section: Discussionmentioning

confidence: 99%

“…Machado-Joseph disease/SCA3 is present in almost every population described (2 exceptions are Italy [31] and Wales [43]) and is the most frequent form in most of the studies (online suppl. table 2).…”

Section: Discussionmentioning

confidence: 99%

“…SCA2 is probably the second most widespread gene worldwide, being the most frequent cause of HCA in Cantabria [18], in Holguín (Cuba) [49] and possibly in some other countries (India [50] and UK [51]). SCA6 and SCA1 are also found in many populations worldwide [18,20,21,22,23,24,30,31,37]. Dentatorubral-pallidoluysian atrophy is particularly frequent in Asia [20,22,37], but also in Portugal [23] and Cantabria [18].…”

Section: Discussionmentioning

confidence: 99%

“…In studies reporting the overall HCA and HSP prevalence, the use of this source was significantly associated with higher prevalence. Another crucial point is the assessment of patients for inclusion: a clinical evaluation by experienced neurologists, using defined criteria and supported by genetic testing and family investigation, is recognized by most authors as the standard for diagnosis and inclusion [20,30,31,36,39,41,42,52] and should be used in future studies. In the genetic testing era, several studies have included some isolated patients as probably hereditary, based on criteria regarding genetic testing, consanguinity, phenotype and auxiliary studies to exclude other entities [20,23,31,42,52].…”

Section: Discussionmentioning

confidence: 99%

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The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

et al. 2014

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Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. Summary: Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies. The MEDLINE, ISI Web of Science and Scopus databases were searched (1983-2013) for studies performed in well-defined populations and geographical regions. Two independent reviewers assessed the studies and extracted data and predefined methodological parameters. Overall, 22 studies were included, reporting on 14,539 patients from 16 countries. Multisource population-based studies yielded higher prevalence values than studies based primarily on hospitals or genetic centres. The prevalence range of dominant HCA was 0.0-5.6/10⁵, with an average of 2.7/10⁵ (1.5-4.0/10⁵). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10⁵, the average being 3.3/10⁵ (1.8-4.9/10⁵). Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. The prevalence of autosomal dominant (AD) HSP (AD-HSP) ranged from 0.5 to 5.5/10⁵ and that of AR-HSP from 0.0 to 5.3/10⁵, with pooled averages of 1.8/10⁵ (95% CI: 1.0-2.7/10⁵) and 1.8/10⁵ (95% CI: 1.0-2.6/10⁵), respectively. The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while SPG11 was the most frequent AR-HSP, followed by SPG15. In population-based studies, the number of families without genetic diagnosis after systematic testing ranged from 33 to 92% in the AD-HCA group, and was 40-46% in the AR-HCA, 45-67% in the AD-HSP and 71-82% in the AR-HSP groups. Key Messages: Highly variable prevalence values for HCA and HSP are reported across the world. This variation reflects the different genetic make-up of the populations, but also methodological heterogeneity. Large areas of the world remain without prevalence studies. From the available data, we estimated that around 1:10,000 people are affected by HCA or HSP. In spite of advances in genetic research, most families in population-based series remain without identified genetic mutation after extensive testing.

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Section: Resultsmentioning

confidence: 99%

“…table 1). Some studies report a high number of unclassified patients (61% [30] and 57% [31]), an in two recent publications, the patients were not classified at all [28,29]. …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

et al. 2014

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Nutritional Disorders Affecting the Skin

Chu

Jen

Yan

2016

Rook's Textbook of Dermatology, Ninth Edition

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Balanced intake, absorption and utilization of macro‐ and micronutrients, including carbohydrates, protein, fat, vitamins and minerals, are necessary for the function of various physiological processes and metabolic reactions. Derangements in this critical balance may lead to disease states with significant cutaneous and systemic manifestations. This chapter provides a comprehensive overview of various essential nutrients and their associated biological significance, as well as the important clinical syndromes that result from their deficiency or excess.

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Nutritional Disorders Affecting the Skin

Yan,

Oboite

2024

Rook's Textbook of Dermatology

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Prevalence of Inherited Ataxias in the Province of Padua, Italy

Cited by 44 publications

References 85 publications

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

Nutritional Disorders Affecting the Skin

Nutritional Disorders Affecting the Skin

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