Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study

Gallais, Benjamin; Gagnon, Cynthia; Mathieu, Jean; Richer, Louis

doi:10.1016/j.nmd.2016.10.003

Cited by 69 publications

(81 citation statements)

References 37 publications

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“…Whilst Gallais et al . () and Sansone et al . () found a non‐significant decline in the copy subtest, Modoni et al .…”

Section: Discussionmentioning

confidence: 85%

“…In our sample, there was a significant decline in block design and in the copy and delayed recall of the ROCF. Among the most recent four longitudinal studies, two of these employed the block design test and both found a decline over time (Gallais et al ., , non‐significant; Winblad et al ., ), which is in line with the results found in this study. Although all the longitudinal studies mentioned used the ROCF, consensus regarding the outcomes of this test is rather less clear.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, DM1 is a neurologic condition that may affect the course of development of cognitive function and decline. Indeed, as already reported in DM1 patients (Gallais et al ., ), it could be hypothesized that the decline in various cognitive functions occurs at different points during the life span.…”

Section: Discussionmentioning

confidence: 99%

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Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study

Labayru

Aliri

Zulaica

et al. 2019

Journal of Neuropsychology

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Background Myotonic dystrophy type 1 (DM1) is an inherited multi‐systemic disease involving the central nervous system (CNS) and is consequently characterized by a range of cognitive impairments. However, whether this cognitive profile progresses over time is still a matter of debate. The aim of this study was to longitudinally assess a DM1 sample, in order to compare, for the first time, this progression with that of a control group. Clinical and socio‐demographic predictive factors potentially implicated in this possible decline are analysed. Method Seventy‐five DM1 patients with childhood, juvenile, adult, and late‐onset, and 54 control participants were re‐assessed in an 11‐year follow‐up with a comprehensive neuropsychological battery. The analyses employed were mixed ANOVA for repeated measures to test intergroup comparisons over time and multiple linear regression for predictive variable analysis. Results Myotonic dystrophy type 1 patients significantly worsened in visuospatial/visuoconstructive abilities and visual memory compared with controls. Multiple linear regression revealed that progression of cognitive impairment measured by copy of the Rey–Osterrieth complex figure was predicted by muscular impairment, whilst on the block design test age predicted the change with a cut‐off at 31 years of age. Discussion A domain‐specific progressive cognitive decline was found in DM1, with visuospatial/visuoconstructive abilities showing the greatest vulnerability to the passage of time. In addition to important clinical implications, these results suggest the need for the scientific community to delve deeper into the potential mechanisms underlying early cognitive decline in this population.

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“…Whilst Gallais et al . () and Sansone et al . () found a non‐significant decline in the copy subtest, Modoni et al .…”

Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study

Labayru

Aliri

Zulaica

et al. 2019

Journal of Neuropsychology

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“…Cardiac involvement is less common in DM2 than in DM1 (118), but still requires careful monitoring. Whereas in DM1 cognitive impairment is well described (19,46), DM2 shows much less cognitive involvement (109). The CCTG repeat expansion in DM2 is complex, including repeat elements in addition to the CCTG repeat, and is prone to an extreme range of pathogenic expansions, from 75 units to as many as 11,000 units (mean of roughly 5000 repeats) (68).…”

Section: Introductionmentioning

confidence: 99%

Repeat expansion diseases

Paulson

2018

Handbook of Clinical Neurology

326

286

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More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome). Here I review distinctive features of this group of diseases that stem from the unusual, dynamic nature of the underlying mutations. These features include marked clinical heterogeneity and the phenomenon of clinical anticipation. I then discuss the diverse molecular mechanisms driving disease pathogenesis, which vary depending on the repeat sequence, size, and location within the disease gene, and whether the repeat is translated into protein. I conclude with a brief clinical and genetic description of individual repeat expansion diseases that are most relevant to neurologists.

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“…Very recently, two studies have reported for DM1 patients, a cognitive decline on longitudinal studies of 5 or 9 years especially for verbal memory, attention, visuo-spatial construction, and processing speed (Gallais et al, 2017; Winblad et al, 2016). In particular, the Swedish study showed that cognitive decline in adult DM1 correlated with earlier onset and longer duration of the disease suggesting a degenerative process, while the Canadian study supported the hypothesis of a progeroid disease (accelerated and increased aging process).…”

Section: Progression Of Cns Symptoms With Agementioning

confidence: 99%

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Gourdon

Meola

2017

Front. Cell. Neurosci.

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Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.

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Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study

Cited by 69 publications

References 37 publications

Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study

Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study

Repeat expansion diseases

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

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