Phenotypic and Molecular Analyses of X-linked Dystonia-Parkinsonism (“Lubag”) in Women

Evidente, Virgilio Gerald H.; Nolte, Dagmar; Niemann, Stephan; Advincula, Joel; Mayo, Mezzanie C.; Natividad, Filipinas F.; Müller, Ulrich

doi:10.1001/archneur.61.12.1956

Cited by 70 publications

(54 citation statements)

References 12 publications

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“…Mean age of onset is around 30 years. All 28 cases of an early series were male and inheritance was compatible with an X-linked recessive trait [76], but females may also be affected, albeit mostly mildly [79,80].…”

Section: Dyt3-x-linked Dystonia-parkinsonism/lubagmentioning

confidence: 99%

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Rare Causes of Dystonia Parkinsonism

Schneider

Bhatia

2010

Curr Neurol Neurosci Rep

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The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the clinician. Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. They have in common that in all these syndromes there may be a combination of dystonic and parkinsonian features, which may be complicated by pyramidal tract involvement. The aim of this review is to familiarize the clinician with the phenotypes of these disorders.

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Section: Dyt3-x-linked Dystonia-parkinsonism/lubagmentioning

confidence: 99%

“…However, good levodopa response was reported in a patient with prominent parkinsonian features [79]. Botulinum toxin injections may provide temporary relief of focal dystonia [83].…”

Section: Dyt3-x-linked Dystonia-parkinsonism/lubagmentioning

confidence: 99%

Rare Causes of Dystonia Parkinsonism

Schneider

Bhatia

2010

Curr Neurol Neurosci Rep

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“…Lubag disease, X-linked dystonia-parkinsonism (XDP), is an X-linked recessive progressive neurodegenerative dystonia-parkinsonism that is endemic to the island of Panay in the Philippines (1,2). The onset of XDP occurs in adulthood and by the end of the third or early fourth decade manifests predominantly as dystonia.…”

Section: Introductionmentioning

confidence: 99%

“…Dystonia usually manifests focally and becomes generalized or multifocal after 5 years in most patients. The disease plateaus until the 10th year of the illness and then its severity reduces or is replaced by Parkinsonian symptoms by the 15th year of illness (1,2). Evidente et al reported the first case of XDP that demonstrated a good response to bilateral pallidal stimulation under local anesthesia (3).…”

Section: Introductionmentioning

confidence: 99%

Anesthesia for deep brain stimulation in a patient with X-linked dystonia-parkinsonism/Lubag disease

et al. 2013

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: Lubag disease is a genetic X-linked dystonia-parkinsonism syndrome afflicting Filipino men. This disease is characterized by dystonia dominating the first 10-15 years of the disorder, which is associated with or replaced by parkinsonian features in later years of life. A 49-year-old man with Lubag disease underwent general anesthesia for deep brain stimulation (DBS) surgery. Anesthesia was maintained mainly with propofol, remifentanil, rocuronium bromide, and sevoflurane. During magnetic resonance imaging, the patient was anesthetized with midazolam, fentanyl, and rocuronium bromide. The surgery was completed safely using these anesthetic agents. After DBS, some symptoms including involuntary movement improved within 10 days.

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“…The word ''lubag'' means ''twisted'' in the local dialect (Evidente et al, 2004b) and is a rather inexact term used by Ilongo-speaking Filipinos to describe any movement characterized by torsion (Lee et al, 2002). The Filipinos themselves therefore prefer to use the more specific term of XDP or DYT3, rather than the general term of Lubag disease.…”

Section: Introductionmentioning

confidence: 99%

Neuropsychological Profile of a Filipino Gentleman with X-Linked Dystonia–Parkinsonism: A Case Report of Lubag Disease

Howe

Kellison

Fernández

et al. 2009

The Clinical Neuropsychologist

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X-Linked Dystonia-Parkinsonism (XDP or "Lubag") is a progressive neurodegenerative disorder unique to the Island of Panay in the Philippines. Imaging and autopsy studies have suggested involvement of the caudate and putamen in late stages. Because the clinical presentation of patients with XDP resembles that of patients with Parkinson disease or dystonia, it is reasonable to predict the neuropsychological profile might be similar; however, the neuropsychological profile of a XDP patient has not previously been published. We present the neuropsychological findings of a 67-year-old gentleman with a 10-year history of XDP who presented with parkinsonian and dystonic symptoms. He was evaluated for suitability for deep brain stimulation surgery. Neuropsychological findings demonstrated diffuse impairment involving memory, visuospatial, language, and executive functioning.

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Phenotypic and Molecular Analyses of X-linked Dystonia-Parkinsonism (“Lubag”) in Women

Cited by 70 publications

References 12 publications

Rare Causes of Dystonia Parkinsonism

Rare Causes of Dystonia Parkinsonism

Anesthesia for deep brain stimulation in a patient with X-linked dystonia-parkinsonism/Lubag disease

Neuropsychological Profile of a Filipino Gentleman with X-Linked Dystonia–Parkinsonism: A Case Report of Lubag Disease

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