Autosomal dominant striatal degeneration (ADSD)

Kuhlenbäumer, Gregor; Lüdemann, Peter; Schirmacher, Anja; Vriendt, Els De; Hünermund, G.; Young, Peter R.; Hund-Georgiadis, Margret; Schuierer, Gerhard; Möller, Harald E.; Ringelstein, E B; Broeckhoven, Christine Van; Timmerman, Vincent; Stögbauer, Florian

doi:10.1212/01.wnl.0000130485.89814.10

Cited by 10 publications

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“…We reported clinical features, neuroimaging, and molecular genetic analysis of a novel Japanese family with ADSD. Brain MRI showed high signal intensities in T2‐weighted images and low signal intensities in T1‐weighted images in the putamen and caudate nucleus, which is very similar to the findings reported previously . We evaluated pre‐ and postsynaptic dopaminergic functions in the striatum by PET scan.…”

Section: Discussionsupporting

confidence: 86%

“…Autosomal‐dominant striatal degeneration (ADSD) is a rare autosomal‐dominant neurodegenerative movement disorder characterized by slowly progressive parkinsonism that is poorly responsive to levodopa, featuring symptoms such as bradykinesia, muscle rigidity, and gait disturbance . Tremor is not usually present.…”

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confidence: 99%

“…Tremor is not usually present. Brain MRI shows distinctive lesions of the striatum, including putamen, caudate nucleus, and nucleus accumbens . High signal intensity in T2‐weighted images and low signal intensity in T1‐weighted images are found in the affected lesion …”

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confidence: 99%

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A novel mutation of PDE8B Gene in a Japanese family with autosomal‐dominant striatal degeneration

et al. 2015

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Section: Discussionsupporting

confidence: 86%

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confidence: 99%

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A novel mutation of PDE8B Gene in a Japanese family with autosomal‐dominant striatal degeneration

et al. 2015

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“…A disease that is related to HD and PD is the rare autosomal‐dominant striatal degeneration (ADSD), which is characterized by dysfunction and morphological changes of the striatum (70). Clinical features resemble PD; however, tremor is absent and response to L ‐dopa treatment is poor.…”

Section: Neurodegenerative Disordersmentioning

confidence: 99%

Phosphodiesterases in neurodegenerative disorders

2012

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SummaryCyclic nucleotide phosphodiesterases (PDEs) are responsible for the breakdown of cyclic nucleotides, cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). As such, they are crucial regulators of levels of cyclic nucleotide-mediated signaling. cAMP signaling and cGMP signaling have been associated with neuroplasticity and protection, and influencing their levels in the cell by inhibition of PDEs has become a much studied target for treatment in a wide array of disorders, including neurodegenerative disorders. In this review, we will focus on the involvement of PDEs in neurodegenerative disorders. In comparison with preclinical work, data on human patients are scarce. Alzheimer's disease is associated with changes in PDE4, PDE7, and PDE8 expression in the brain. Altered functioning of PDE4 as well as PDE11 is associated with major depressive disorder. In multiple sclerosis, there are indications of alterations in expression of several PDE subtypes in the central nervous system; however, evidence is indirect. In Huntington's disease and Parkinson's disease, most research has focused on PDE1B and PDE10, because of their abundant presence in striatal neurons. In another rare, neurodegenerative striatal motor disorder, that is, autosomal-dominant striatal degeneration, genetic defects in PDE8B gene are thought to underlie the neurodegenerative processes. Although the latter disorder has showed a causative dysfunction of PDEs, this does not hold for the neurodegenerative disorders discussed above, in which changes in PDE levels seemingly rather represent secondary changes and compensation to prior existing dysfunction. However, normalizing cyclic nucleotide signaling via PDE inhibition remains interesting for the treatment of neurodegenerative disorders.2012 IUBMB IUBMB Life, 64(12): 965-970, 2012

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“…In addition, caudate degeneration is characteristic of several genetic diseases. Caudate degeneration occurs in several rare Mendelian disorders: Huntington’s disease (6, 7), pantothenate kinase-associated neurodegeneration (8), neuroferritinopathy (9), and autosomal dominant striatal degeneration (10, 11). In these cases, linkage analysis in affected families revealed specific causal genetic variants associated with caudate degeneration and impaired cognition.…”

Section: Introductionmentioning

confidence: 99%

Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search

et al. 2011

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The caudate is a subcortical brain structure implicated in many common neurological and psychiatric disorders. To identify specific genes associated with variations in caudate volume, structural MRI and genome-wide genotypes were acquired from two large cohorts, the Alzheimer’s Disease NeuroImaging Initiative (ADNI; N=734) and the Brisbane Adolescent/Young Adult Longitudinal Twin Study (BLTS; N=464). In a preliminary analysis of heritability, around 90% of the variation in caudate volume was due to genetic factors. We then conducted genome-wide association to find common variants that contribute to this relatively high heritability. Replicated genetic association was found for the right caudate volume at SNP rs163030 in the ADNI discovery sample (P=2.36×10−6) and in the BLTS replication sample (P=0.012). This genetic variation accounted for 2.79% and 1.61% of the trait variance, respectively. The peak of association was found in and around two genes, WDR41 and PDE8B, involved in dopamine signaling and development. In addition, a previously identified mutation in PDE8B causes a rare autosomal-dominant type of striatal degeneration. Searching across both samples offers a rigorous way to screen for genes consistently influencing brain structure at different stages of life. Variants identified here may be relevant to common disorders affecting the caudate.

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Autosomal dominant striatal degeneration (ADSD)

Abstract: ADSD is an autosomal dominant basal ganglia disease mapping to chromosome 5q13.3-q14.1.

Cited by 10 publications

References 10 publications

A novel mutation of PDE8B Gene in a Japanese family with autosomal‐dominant striatal degeneration

A novel mutation of PDE8B Gene in a Japanese family with autosomal‐dominant striatal degeneration

Phosphodiesterases in neurodegenerative disorders

Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search

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