Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Rossi, Malco; Escobar, Alex Medina; Ameghino, Lucía; Merello, Marcelo

doi:10.1016/j.jns.2017.04.037

Cited by 10 publications

(10 citation statements)

References 4 publications

(7 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Treatment of dystonic features remains difficult. In very rare cases, they can resolve spontaneously and completely over time (e.g., in ataxia‐oculomotor apraxia type 4 and SCA‐CACNA1A) Without counting on these exceptions, dystonic symptoms are always persistent and hardly alleviated with drugs such as levodopa, anticholinergics, or botulinum toxin . It is important to emphasize that botulinum toxin use can be dangerous in the treatment of cervical or oromandibular dystonia in patients with spinocerebellar ataxias; this is because dysphagia is very common in this group of neurodegenerative diseases .…”

Section: Methodsmentioning

confidence: 99%

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

Self Cite

View full text Add to dashboard Cite

Background Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever‐expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia‐ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico‐radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia‐ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia‐ataxia syndromes.

show abstract

Section: Methodsmentioning

confidence: 99%

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

Self Cite

View full text Add to dashboard Cite

show abstract

“…Some patients may have a milder phenotype, as illustrated in patient #4 . Whilst dystonia was anecdotally reported in PMM2‐CDG , it was detected in all four patients in this study, associated with choreo‐athetosis.…”

Section: Discussionmentioning

confidence: 50%

“…Some patients may have a milder phenotype, as illustrated in patient #4 [9,21]. Whilst dystonia was anecdotally reported in PMM2-CDG [10,[17][18][19], it was detected in all four patients in this study, associated with choreo-athetosis. Asparagine-linked glycosylation 6 CDG is the second most common type of CDG.…”

Section: Discussionmentioning

confidence: 52%

“…Available data on involuntary movements other than ataxia and related tremor as well as epileptic myoclonus in human glycosylation disorders are presented in Table . Hyperkinetic movement disorders have only been documented in a few dozen patients, a small estimate with respect to the thousand of patients diagnosed in Europe , being mostly reported in PMM2‐CDG and deficiency of N ‐glycanase 1 . Overall, choreo‐athetosis and dystonia together with stereotypies were the prevalent documented hyperkinetic movement disorders across the different CDG subtypes.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Hyperkinetic movement disorders in congenital disorders of glycosylation

Mostile

Barone

Rizzo

et al. 2019

Euro J of Neurology

View full text Add to dashboard Cite

Background and purpose Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG and to characterize phenomenology based on CDG subtypes. Methods Subjects were identified from a cohort of patients with CDG who were referred to the University Hospital of Catania, Italy. Patients were evaluated by neurologists with expertise in movement disorders and videotaped using a standardized protocol. Results A variety of hyperkinetic movement disorders was detected in eight unrelated CDG patients. Involuntary movements were generally observed early in childhood, maintaining a clinical stability over time. Distribution ranged from a generalized, especially in younger subjects, to a segmental/multifocal involvement. In patients with phosphomannomutase 2 CDG, the principal movement disorders included dystonia and choreo‐athetosis. In patients affected by other CDG types, the movement disorders ranged from pure generalized chorea to mixed movement disorders including dystonia and complex stereotypies. Conclusions Hyperkinetic movement disorder is a key clinical feature in patients with CDG. CDG should be considered in the differential diagnosis of childhood‐onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism or seizure disorder.

show abstract

“…Dystonia is not usually reported among the main neurological features of CDG (Jaeken and van den Heuvel, 2014). Cervical dystonia was described in two sisters with PMM2‐CDG, one also with dystonic hands posture (Rossi et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Barco

Osanni

Bordugo

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Congenital glycosylation disorders (CDG) are inherited metabolic diseases due to defective glycoprotein and glycolipid glycan assembly and attachment. MOGS‐CDG is a rare disorder with seven patients from five families reported worldwide. We report on a 19‐year‐old girl with MOGS‐CDG. At birth she presented facial dysmorphism, marked hypotonia, and drug‐resistant tonic seizures. In the following months, her motility was strongly limited by dystonia, with forced posture of the head and of both hands. She showed a peculiar hyperkinetic movement disorder with a rhythmic and repetitive pattern repeatedly documented on EEG‐polygraphy recordings. Brain MRI showed progressive cortical and subcortical atrophy. Epileptic spasms appeared in first months and ceased by the age of 7 years, while tonic seizures were still present at last assessment (19 years). We report the oldest‐known MOGS‐CDG patient and broaden the neurological phenotype of this CDG.

show abstract

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Cited by 10 publications

References 4 publications

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Hyperkinetic movement disorders in congenital disorders of glycosylation

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Contact Info

Product

Resources

About