X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment

Chin, Hok Leong; Lin, Chiou–Feng; Chou, Oscar Hou In

doi:10.1007/s13760-022-02144-3

Cited by 6 publications

(4 citation statements)

References 69 publications

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“…Furthermore, clinical studies have shown that bradykinesia has been observed in patients diagnosed with functional dystonia [30]. The issue of combined dystonia, which mainly refers to dystonia-parkinsonism syndrome has been extensively reviewed from both a phenomenological and pathophysiological perspective [31][32][33][34]. In this context, given the complex etiology of dystonia-parkinsonism, that can result from a variety of factors affecting the basal ganglia such as structural, metabolic, drug-induced, infectious, autoimmune, or genetic diseases, the presence of bradykinesia is not unexpected [31,33,35].…”

Section: Introductionmentioning

confidence: 99%

“…We first focused our discussion on clinical and experimental studies investigating bradykinesia in patients with idiopathic and inherited isolated dystonia (both focal/segmental and generalized), and other intriguing and new aspects that have emerged in recent literature including bradykinesia in patients with dystonia treated with DBS and in patients with functional dystonia. While acknowledging the issue of dystonia-parkinsonism, we only provide a brief overview of this topic as it has already been extensively covered by other authors [31][32][33][34].…”

Section: Introductionmentioning

confidence: 99%

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Bradykinesia and dystonia

Paparella

Guerra²,

Galosi³

et al. 2023

Dystonia

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Background: Bradykinesia has been reported in patients with dystonia. Despite this, the pathophysiological mechanisms of bradykinesia in dystonia remain largely unknown.Methods: We here performed a comprehensive literature search and reviewed clinical and experimental studies on bradykinesia in patients with dystonia.Results: Many studies have documented the presence of bradykinesia in patients with idiopathic and inherited isolated dystonia, regardless of the presence of parkinsonism. In addition, bradykinesia has been observed as a side effect in dystonic patients who have undergone deep brain stimulation, in those with functional dystonia as well as in those with combined dystonia, e.g., dystonia-parkinsonism. These clinical and experimental findings support the hypothesis that dysfunction in a brain network involving the basal ganglia, primary sensorimotor cortex, and cerebellum may play a key role in the pathophysiology of both bradykinesia and dystonia.Conclusion: Bradykinesia is frequently observed in dystonia. We may gain insights into the pathophysiological underpinnings of two distinct movement disorders by investigating this issue. Furthermore, a deeper understanding of bradykinesia in dystonia may have terminological implications in this field.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Bradykinesia and dystonia

Paparella

Guerra²,

Galosi³

et al. 2023

Dystonia

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“…There is craniocaudal progression, often starting in the jaw and then spreading downward. 30 A peculiar gait named "phasic knee bending dystonic-parkinsonian gait" has been described and may help think of this condition. 31 The most important finding of brain MRI is striatal atrophy.…”

Section: Patient Datamentioning

confidence: 99%

“…It starts with focal dystonia about the fourth decade, which generalizes and becomes the most prominent feature. There is craniocaudal progression, often starting in the jaw and then spreading downward 30 . A peculiar gait named “phasic knee bending dystonic‐parkinsonian gait” has been described and may help think of this condition 31 .…”

Section: Literature Reviewmentioning

confidence: 99%

X‐Linked Levodopa‐Responsive Parkinsonism‐Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review

Guimarães,

Parmera,

Castro

et al. 2024

Movement Disord Clin Pract

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BackgroundGenetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene‐specific treatment trials.CasesWe report 3 X‐linked levodopa (l‐dopa)–responsive parkinsonism‐epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant NM_000291.4 (PGK1):c.950G > A;p.(Gly317Asp) was identified in a hemizygous state.Literature reviewOnly 8 previous cases have linked this phenotype to PGK1, a gene more commonly associated with hemolytic anemia and myopathy. The unusual association of epilepsy, psychiatric symptoms, action tremor, limb dystonia, cognitive symptoms, and l‐dopa‐responsive parkinsonism must draw attention to PGK1 mutations, especially because this gene is absent from most commercial hereditary parkinsonism panels.ConclusionsThis report aims to shed light on an overlooked gene that causes hereditary parkinsonian syndromes. Further research regarding genetic pathways in PD may provide a better understanding of its pathophysiology and open possibilities for new disease‐modifying trials, such as SNCA, LRRK2, PRKN, PINK1, and DJ‐1 genes.

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