Depression in X-linked dystonia-parkinsonism: A case–control study

Morigaki, Ryoma; Nakataki, Masahito; Kawarai, Toshitaka; Lee, Lillian V.; Teleg, Rosalia A.; Tabuena, Ma. Daisy P.; Mure, Hideo; Sako, Wataru; Pasco, Paul Matthew D.; Saijo, Nagahiro; Iga, Jun‐ichi; Ohmori, Tetsuro; Goto, Satoshi; Kaji, Ryuji

doi:10.1016/j.parkreldis.2013.04.027

Cited by 16 publications

(11 citation statements)

References 5 publications

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“…Causes of death include a non-ignorable number of suicides (9%) [ 3 ]. Notably, 14.3% of patients with XDP have major depression, according to the Diagnostic and Statistical Manual-IV (DSM-IV) criteria [ 23 ]. In addition, 35.7% of patients with XDP have anxiety disorders, including social phobia (28.6%), agoraphobia (21.4%), and panic disorder (7.1%), as determined using the DSM-IV [ 23 ].…”

Section: Clinical Phenotypementioning

confidence: 99%

“…Notably, 14.3% of patients with XDP have major depression, according to the Diagnostic and Statistical Manual-IV (DSM-IV) criteria [ 23 ]. In addition, 35.7% of patients with XDP have anxiety disorders, including social phobia (28.6%), agoraphobia (21.4%), and panic disorder (7.1%), as determined using the DSM-IV [ 23 ]. Depressive symptoms are highly prevalent in up to 92.9% of patients, as determined using the Zung Self-Rating Depression Scale, and in 54.8% of patients when they are assessed using the Hamilton Depression Rating Scale (HAM-D) [ 16 , 23 ].…”

Section: Clinical Phenotypementioning

confidence: 99%

“…In addition, 35.7% of patients with XDP have anxiety disorders, including social phobia (28.6%), agoraphobia (21.4%), and panic disorder (7.1%), as determined using the DSM-IV [ 23 ]. Depressive symptoms are highly prevalent in up to 92.9% of patients, as determined using the Zung Self-Rating Depression Scale, and in 54.8% of patients when they are assessed using the Hamilton Depression Rating Scale (HAM-D) [ 16 , 23 ]. A worsening of both Burke–Fahn–Marsden Dystonia Rating Scale (BFM-DRS) and Schwab and England Activities of Daily Living scores are significantly correlated with positive HAM-D scores [ 16 ].…”

Section: Clinical Phenotypementioning

confidence: 99%

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Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)

et al. 2017

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X-linked dystonia–parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen). XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP.

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Section: Clinical Phenotypementioning

confidence: 99%

Section: Clinical Phenotypementioning

confidence: 99%

Section: Clinical Phenotypementioning

confidence: 99%

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Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)

et al. 2017

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“…However, patients with XDP are at a greater risk of developing psychiatric and cognitive symptoms, with 93% suffering from depressive symptoms in one study [36] and suicide incidence accounting for 9% of mortality in another [7]. Transient worsening of depression occurred in 1 of our patients but improved with pharmacotherapy.…”

Section: Discussionmentioning

confidence: 84%

Long-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism

Kilbane

Witt

Galifianakis

et al. 2018

Stereotact Funct Neurosurg

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Background: X-linked dystonia parkinsonism (XDP) causes adult-onset progressive dystonia and parkinsonism, which may not respond to pharmacotherapy. Objective: Previous case reports have reported beneficial effects from bilateral pallidal (GPi) deep brain stimulation (DBS). Here, we report the long-term clinical outcomes of 3 patients treated at our center. Methods: All patients presented with medication refractory dystonia and parkinsonism. They were followed prospectively. Clinical evaluations included the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Unified Parkinson’s Disease Rating Scale (UPDRS). Adverse events were recorded. Results: The average length of follow-up was 45.7 months. No serious adverse events occurred. All patients experienced an immediate and sustained improvement in dystonia. Mean percentage improvement in motor subscores of BFMDRS was 63.5% at the last follow-up visit. Parkinsonism was less responsive to neuromodulation, with a mean improvement in UPDRS-III of 39.5%. Standard pallidal stimulation parameters were used. Freezing of gait developed after DBS therapy in 2 patients, stimulation-induced in one and due to disease progression in the other. Conclusion: Bilateral pallidal DBS resulted in significant and sustained improvement in dystonia and moderate improvement in parkinsonism. Pallidal DBS represents an important treatment option for XPD for the management of motor symptoms.

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“…Anxiety disorder (35.7%), social phobia (28.6%) and agoraphobia (21.4%) were identified as the most common symptoms in the mutation positive group. Major depression was less prevalent (14.3% of cases overall), however use of the Zung Self Rating Depression Scale (SDS) found a significant difference in mean depression scores between the mutation positive cases and controls (p ¼ 0.004) [10].…”

Section: Dyt3: X-linked Dystonia Parkinsonism (Xdp)mentioning

confidence: 99%

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

Peall

Kuiper

Koning

et al. 2015

Parkinsonism & Related Disorders

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Depression in X-linked dystonia-parkinsonism: A case–control study

Cited by 16 publications

References 5 publications

Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)

Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)

Long-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

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