Deep Brain Stimulation in Patients with Isolated Generalized Dystonia Caused by <i>PRKRA</i> Mutation

Casagrande, Sara Carvalho Barbosa; Listik, Clarice; Coelho, Daniel Boari; Limongi, João Carlos Papaterra; Teixeira, Luís Augusto; Teixeira, Manoel Jacobsen; Barbosa, Egberto Reis; Cury, Rubens Gisbert

doi:10.1002/mdc3.12811

Cited by 6 publications

(9 citation statements)

References 6 publications

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“…Mutations in PRKRA cause young onset autosomal recessive dystonia parkinsonism ( 92 ). A response to GPi-DBS has been shown in a small number of cases of DYT16; a study of 2 patients showed an improvement in BFMDRS and walking times on gait analysis ( 93 ), and GPI-DBS produced a sustained improvement in cranial and limb dystonia over 10 years in one patient with a homozygous PRKRA mutation ( 94 ).…”

Section: Genetic Forms Of Dystonia and Response To Gpi-dbsmentioning

confidence: 99%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults. Predictive factors for the degree of improvement after GPi DBS include shorter disease duration and dystonia subtype with idiopathic isolated dystonia usually responding better than acquired combined dystonias. Other factors contributing to variability in outcome may include body distribution, pattern of dystonia and DBS related factors such as lead placement and stimulation parameters. The responsiveness to DBS appears to vary between different monogenic forms of dystonia, with some improving more than others. The first observation in this regard was reports of superior DBS outcomes in DYT-TOR1A (DYT1) dystonia, although other studies have found no difference. Recently a subgroup with young onset DYT-TOR1A, more rapid progression and secondary worsening after effective GPi DBS, has been described. Myoclonus dystonia due to DYT-SCGE (DYT11) usually responds well to GPi DBS. Good outcomes following GPi DBS have also been documented in X-linked dystonia Parkinsonism (DYT3). In contrast, poorer, more variable DBS outcomes have been reported in DYT-THAP1 (DYT6) including a recent larger series. The outcome of GPi DBS in other monogenic isolated and combined dystonias including DYT-GNAL (DYT25), DYT-KMT2B (DYT28), DYT-ATP1A3 (DYT12), and DYT-ANO3 (DYT24) have been reported with varying results in smaller numbers of patients. In this article the available evidence for long term GPi DBS outcome between different genetic dystonias is reviewed to reappraise popular perceptions of expected outcomes and revisit whether genetic diagnosis may assist in predicting DBS outcome.

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Section: Genetic Forms Of Dystonia and Response To Gpi-dbsmentioning

confidence: 99%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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“…For the study characteristics, a total of 33 cases had been described in 15 articles (Table 1) [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15]. The majority of cases reported were from Brazil and European countries, with 18 cases (54.5%) and 14 cases (42.4%), respectively.…”

Section: Resultsmentioning

confidence: 99%

“…These commonly involved extremities, oromandibular region, larynx, cervical region, and trunk. Parkinsonism was also developed in 15 cases (45.5%) [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15].…”

Section: Isolated Focal Dystoniamentioning

confidence: 99%

“…Thiamine ameliorated dystonia remarkably in three Italian brothers and helped to prevent post-febrile encephalopathy in another infant case [9,12]. Botulinum toxin injection outcomes varied but provided partial symptoms relief at the site of injection in general [1,3,4,11,12]. Four dystonia patients underwent deep brain stimulation of globus pallidus interna and had long-lasting marked improvement in symptoms.…”

Section: Isolated Focal Dystoniamentioning

confidence: 99%

“…decreased by half to two thirds, 3-6 months post-surgery [4,11,13]. Pallidotomy, as an invasive procedure, did not provide optimal clinical bene ts.…”

Section: Isolated Focal Dystoniamentioning

confidence: 99%

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PRKRA-related Dystonia: A Summary of Previously Reported Cases

Chin¹,

Cheong

2022

Preprint

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DYT-PRKRA is a rare autosomal recessive degenerative movement disorder caused by PRKRA mutations. The classical clinical presentation is childhood-onset generalized dystonia with or without parkinsonism symptoms. Limbs and oromandibular muscles are most frequently involved. A review of literature on reports of PRKRA-related dystonia from 2008 to present was conducted through PubMed to provide a synoptic overview of patients’ characteristics regarding this rare condition. Studies were extracted according to the PRISMA protocol, and a total of 15 articles were included in this review summary. The majority of cases were reported in Brazil and Europe, and 84.8% of patients’ symptoms onset before 20 years old. Among the patients, homozygous c.665C > T mutation was the most common PRKRA mutation. Dystonia was generalized in 81.8% of cases, and parkinsonism presentation was observed in 45.5% of patients. Three patients developed dystonia after fever and showed bilateral structure loss of basal ganglia. Four patients’ dystonia improved significantly with vitamin therapy, and four patients demonstrated remarkable dystonia regression in response to deep brain stimulation of globus pallidus interna. Phenotypic heterogeneity in patients’ characteristics was observed in this review, suggesting the possibility of PRKRA-related dystonia being a spectrum disorder. More research is needed to study the underlying etiology and the actual prevalence of PRKRA-related dystonia.

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PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants (DYT‐PRKRA)

Ribeiro

Sousa

Alonso

et al. 2022

Movement Disord Clin Pract

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A genetic etiology of isolated dystonia is suspected if there is an early-onset dystonia or a positive family history. However, the current overall yield of a genetic etiological diagnosis remains below 30%. 1 We present a case of a 13-year-old Caucasian male, the only child from a non-consanguineous couple, without family history of neurological diseases, with no previous medical history, and normal psychomotor development.At the age of 8, he started developing involuntary twisting movements that resulted in abnormal postures, first affecting his right lower-limb, then progressing to cervical region and right upper-limb, mildly impairing his daily activities and manifesting mostly while exercising. At 9 years old, the dystonic movements progressed to left hemi-body and axial region, and he developed a slight slurred speech. There were no cognitive or behavioral symptoms, and he maintained school performance with adjustments.At the age of 11, his examination revealed a generalized dystonia (Fig. 1, Video 1) resulting in gait impairment, frequent falls, and important disruption of daily activities. There were no ophthalmological abnormalities, other cranial nerve signs, pyramidal signs, parkinsonism, cerebellar features, or myoclonus.Initial therapeutic management included levodopa/carbidopa (up to 300 mg per day), clonazepam, baclofen, and tetrabenazine, all without sustained response. Complementary examination included a normal brain and cervical magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis. Laboratory work-up

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Deep Brain Stimulation in Patients with Isolated Generalized Dystonia Caused by PRKRA Mutation

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Cited by 6 publications

References 6 publications

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

PRKRA-related Dystonia: A Summary of Previously Reported Cases

PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants (DYT‐PRKRA)

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