Dystonia in atypical parkinsonian disorders

Marsili, Luca; Bologna, Matteo; Kojović, Maja; Berardelli, Alfredo; Espay, Alberto J.; Colosimo, Carlo

doi:10.1016/j.parkreldis.2019.07.030

Cited by 31 publications

(13 citation statements)

References 114 publications

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“…Drug-induced index-finger pointing posture is a unique finding in the present case. A “pointing gun” dystonic posture, which is observed in patients with progressive supranuclear palsy, represents a neurological sign similar to the index finger pointing posture; however, it is characterized by an extended thumb and index finger with the other fingers flexed [4] . In a previous study, index-finger pointing posture was observed during walking in non-psychogenic movement disorders, including craniocervical dystonia, Parkinson’s disease, and essential tremor [2] .…”

Section: Discussionmentioning

confidence: 99%

Index finger pointing posture in a patient with drug-induced foot tremor

Yamada

Toyoda

Katada

et al. 2021

Clinical Parkinsonism & Related Disorders

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Section: Discussionmentioning

confidence: 99%

Index finger pointing posture in a patient with drug-induced foot tremor

Yamada

Toyoda

Katada

et al. 2021

Clinical Parkinsonism & Related Disorders

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“…AEO is a common form of blepharospasm in progressive supranuclear palsy (PSP), and the cranial dystonia is largely unaffected or aggravated by levodopa treatment [ 3 ]. In PD, cranial dystonia, including blepharospasm, was less frequently observed than PSP, and it occurred under wearing-off states and responded to levodopa, or the dystonia also observed under a “peak-dose” effect of levodopa [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Apraxia of eyelid opening (AEO) is defined as the intermittent non-paralytic bilateral loss of the volitional ability to open the eyes or sustained eyelid elevation at certain times which cannot be explained by focal muscle weakness or dysfunction of neither the third nor the seventh cranial nerve [ 1 , 2 ]. The presence of AEO in association with diseases affecting extrapyramidal system, the rostral brainstem or the right hemisphere [ 3 , 4 ] suggests the basal ganglia structure and the associated neuronal networks involves in the pathogenesis of AEO. Patients with Parkinson's disease (PD) sometimes exhibit AEO.…”

mentioning

confidence: 99%

Apraxia of eyelid opening might be critical for levodopa-carbidopa intestinal gel treatment

Kataoka

Sawada

Shimozato

et al. 2020

Clinical Parkinsonism & Related Disorders

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Apraxia of eyelid opening (AEO) has been associated with levodopa. It has also been linked to impaired function of the frontal lobe, with the dopaminergic neuron projected to the frontal lobe. However, dopaminergic treatment for AEO is still controversial. Here we describe two patients with both Parkinson's disease (PD) and AEO, who responded differently to a continuous intrajejunal levodopa-carbidopa intestinal gel (LCIG) infusion. One of the patients manifested a deterioration of AEO after LCIG infusion, and off-periods were shortened by the decrease in the severity of dyskinesia. After discontinuing the use of LCIG, there was an improvement in the patient's ability to open her eyelids. The other patient had AEO prior to LCIG treatment, and this treatment spontaneously elevated her eyelids. These two PD patients raised the concern as to whether AEO may be a critical symptom for the indication of LCIG treatment. The different responses to LCIG might have been due to the fluctuation in brain dopamine levels during LCIG treatment.

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“…Isolated or combined dystonia in adults may be the initial manifestation of PD, multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and -less commonly- dementia with Lewy bodies (DLB) and Creutzfeldt-Jakob disease (CJD) 36. Diagnosis of these disorders is based on clinical criteria combined with neuroimaging and in rare cases, DNA analysis 37–41.…”

Section: A New Diagnostic Approachmentioning

confidence: 99%

A novel diagnostic approach for patients with adult-onset dystonia

Egmond

Lagrand

Lizaitiene

et al. 2022

J Neurol Neurosurg Psychiatry

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Adult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is available. In recent years, rapid developments in neuroimmunology have led to increased knowledge on autoantibody-related dystonias. At the same time, genetic diagnostics in sequencing technology have evolved and revealed several new genes associated with adult-onset dystonia. Furthermore, new phenotype–genotype correlations have been elucidated. Consequently, clinicians face the dilemma of which additional investigations should be performed and whether to perform genetic testing or not. To ensure early diagnosis and to prevent unnecessary investigations, integration of new diagnostic strategies is needed.We designed a new five-step diagnostic approach for adult-onset dystonia. The first four steps are based on a broad literature search and expert opinion, the fifth step, on when to perform genetic testing, is based on a detailed systematic literature review up to 1 December 2021.The basic principle of the algorithm is that genetic testing is unlikely to lead to changes in management in three groups: (1) patients with an acquired form of adult-onset dystonia; (2) patients with neurodegenerative disorders, presenting with a combined movement disorder including dystonic symptoms and (3) patients with adult-onset isolated focal or segmental dystonia. Throughout the approach, focus lies on early identification of treatable forms of dystonia, either acquired or genetic.This novel diagnostic approach for adult-onset dystonia can help clinicians to decide when to perform additional tests, including genetic testing and facilitates early aetiological diagnosis, to enable timely treatment.

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Dystonia in atypical parkinsonian disorders

Cited by 31 publications

References 114 publications

Index finger pointing posture in a patient with drug-induced foot tremor

Index finger pointing posture in a patient with drug-induced foot tremor

Apraxia of eyelid opening might be critical for levodopa-carbidopa intestinal gel treatment

A novel diagnostic approach for patients with adult-onset dystonia

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