Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia

Hellberg, Clara; Alinder, Erik; Jaraj, Daniel; Puschmann, Andreas

doi:10.1016/j.parkreldis.2019.10.028

Cited by 17 publications

(22 citation statements)

References 22 publications

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“…As noted above, the SCAs as a composite whole are characterized by modest prevalence [8,9]. For example, the prevalence of the autosomal dominant SCAs has been estimated to be 1 -9 cases per 100 000 people [8][9][10][11][12][13][14][15]. Autosomal recessive ataxias are similarly characterized by low prevalence; Friedreich's ataxia, the most common, has a prevalence of 0.5 -5/100,000 [13,16,17].…”

Section: Cumulative Thesis: Et Is the Most Common Form Of Cerebellar mentioning

confidence: 99%

“…The prevalence of the autosomal dominant SCAs has been estimated to be 1 -9 cases per 100 000 people, and over 40 subtypes are now genetically defined [5,[8][9][10][11][12][13][14][15]. Among these, SCA2 and SCA3 are the most common subtypes worldwide; SCA1, SCA6, SCA7 and SCA8 often make up a relatively larger proportion of SCAs and the remainder tends to be rarer, although there is variation in prevalence from country to country [8,10,11,13,15].…”

Section: Introductionmentioning

confidence: 99%

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Essential tremor: the most common form of cerebellar degeneration?

Louis

Faust

2020

cerebellum ataxias

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Background: The degenerative cerebellar ataxias comprise a large and heterogeneous group of neurological diseases whose hallmark clinical feature is ataxia, and which are accompanied, to variable degrees, by other features that are attributable to cerebellar dysfunction. Essential tremor (ET) is an exceptionally common neurological disease whose primary motor feature is action tremor, although patients often manifest intention tremor, mild gait ataxia and several other features of cerebellar dysfunction. Main Body: In this paper, we review the abundant evidence derived from clinical, neuroimaging and postmortem studies, linking ET to cerebellar dysfunction. Furthermore, we review the combination of clinical, natural history and postmortem features suggesting that ET is neurodegenerative. We then compare the prevalence of ET (400-900 cases per 100,000) to that of the other cerebellar degenerations (ranging from <0.5-9 cases per 100,000, and in composite likely to be on the order of 20 cases per 100,000) and conclude that ET is 20 to 45 times more prevalent than all other forms of cerebellar degeneration combined. Conclusion: Given the data we present, it is logical to conclude that ET is, by far, the most common form of cerebellar degeneration.

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Section: Cumulative Thesis: Et Is the Most Common Form Of Cerebellar mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Essential tremor: the most common form of cerebellar degeneration?

Louis

Faust

2020

cerebellum ataxias

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“…As the third most common movement disorder after essential tremor and Parkinson’s disease, isolated dystonia is estimated to affect up to 35.1 per 100,000 general population ( 2 ). Its exact incidence, however, is unknown because up to 50% of dystonia cases go misdiagnosed or underdiagnosed at their first encounter ( 3 ) and the average diagnostic delay extends up to 10.1 y, depending on the form of dystonia ( 4 – 10 ).…”

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confidence: 99%

A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform

Valeriani

Simonyan

2020

Proc. Natl. Acad. Sci. U.S.A.

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Isolated dystonia is a neurological disorder of heterogeneous pathophysiology, which causes involuntary muscle contractions leading to abnormal movements and postures. Its diagnosis is remarkably challenging due to the absence of a biomarker or gold standard diagnostic test. This leads to a low agreement between clinicians, with up to 50% of cases being misdiagnosed and diagnostic delays extending up to 10.1 y. We developed a deep learning algorithmic platform, DystoniaNet, to automatically identify and validate a microstructural neural network biomarker for dystonia diagnosis from raw structural brain MRIs of 612 subjects, including 392 patients with three different forms of isolated focal dystonia and 220 healthy controls. DystoniaNet identified clusters in corpus callosum, anterior and posterior thalamic radiations, inferior fronto-occipital fasciculus, and inferior temporal and superior orbital gyri as the biomarker components. These regions are known to contribute to abnormal interhemispheric information transfer, heteromodal sensorimotor processing, and executive control of motor commands in dystonia pathophysiology. The DystoniaNet-based biomarker showed an overall accuracy of 98.8% in diagnosing dystonia, with a referral of 3.5% of cases due to diagnostic uncertainty. The diagnostic decision by DystoniaNet was computed in 0.36 s per subject. DystoniaNet significantly outperformed shallow machine-learning algorithms in benchmark comparisons, showing nearly a 20% increase in its diagnostic performance. Importantly, the microstructural neural network biomarker and its DystoniaNet platform showed substantial improvement over the current 34% agreement on dystonia diagnosis between clinicians. The translational potential of this biomarker is in its highly accurate, interpretable, and generalizable performance for enhanced clinical decision-making.

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“…In recent years (2016 to present), the prevalence of idiopathic adult‐onset dystonia 1 was examined by six service‐based/record linkage system studies 21‐26 and one population‐sample study 27 …”

Section: Recent Prevalence Studiesmentioning

confidence: 99%

“…The Faroe Islands study 21 and the Colombia study 22 yielded the highest prevalence rates (60.2–71.2 × 10 5 ), whereas estimates from the remaining two studies were in the low range of variability (2.7–17.8 × 10 5 ). Two further studies performed in Finland 25 and Sweden 26 collected data from several sources through a double‐phase procedure. First, a national patient registry was analyzed to identify patients from the study area coded with a diagnosis of dystonia.…”

Section: Recent Prevalence Studiesmentioning

confidence: 99%

Is Adult‐Onset Dystonia a Rare Disease? Time for Population‐Based Studies

Defazio

Berardelli

2021

Movement Disorders

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Adult-onset dystonia 1 is considered a rare disease, a conclusion based on the relatively homogeneous low prevalence estimates provided by the majority of studies conducted between 1980 and 2011. Among the 19 studies performed in this period, 2-20 15 service-based/record linkage system studies and 3 population studies yielded crude prevalence estimates ranging between 3.0 and 43.0 × 10 5 , with estimates from most studies (10 of 18) narrowly ranging from 10.1 to 14.4 × 10 5 . [3][4][5][6]8,10,11,13,14 Only one population-based study in Northern Italy 19 yielded a significantly higher estimate, 732 × 10 5 in people aged 50 years or older, but interpretation of this study was limited by methodological issues (see later).

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Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia

Cited by 17 publications

References 22 publications

Essential tremor: the most common form of cerebellar degeneration?

Essential tremor: the most common form of cerebellar degeneration?

A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform

Is Adult‐Onset Dystonia a Rare Disease? Time for Population‐Based Studies

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