Movement disorders in neuro-metabolic diseases

Gouider-Khouja, N.; Kraoua, Ichraf; Benrhouma, Hanène; Fraj, Narjes; Rouissi, Aida

doi:10.1016/j.ejpn.2009.11.005

Cited by 34 publications

(26 citation statements)

References 17 publications

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“…13,14 A detailed description of such conditions is beyond the scope of this review; however, consideration in the differential diagnosis is crucial since targeted, diseasespecific treatments are available for many of these disorders. 13,14 A detailed description of such conditions is beyond the scope of this review; however, consideration in the differential diagnosis is crucial since targeted, diseasespecific treatments are available for many of these disorders.…”

Section: Epilepsy and Movement Disorders In Inborn Errors Of Metabolismmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

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Section: Epilepsy and Movement Disorders In Inborn Errors Of Metabolismmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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“…20 With regard to autosomal recessive disorders, M-D was described in one patient with vitamin E deficiency, 21 who later developed ataxia, and has been rarely reported in other disorders affecting the dopamine synthesis pathway such as SR or AADC deficiency. 22,23 When myoclonus and dystonia are only part of the phenotype, a number of mitochondrial 24 or neurometabolic disorders (e.g., Lafora body disease, GM2 gangliosidosis, and Niemann-Pick disease) 25 should be considered in the differential diagnosis.…”

Section: Genetic Results For Thementioning

confidence: 99%

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

et al. 2012

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Objective: To present a new family with tyrosine hydroxylase deficiency (THD) that presented with a new phenotype of predominant, levodopa-responsive myoclonus with dystonia due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation in the other allele, thus expanding the clinical and genetic spectrum of this disorder. Methods:We performed detailed clinical examination of the family and electrophysiology to characterize the myoclonus. We performed analysis of the TH gene and in silico prediction of the possible effect of nonsynonymous substitutions on protein structure.Results: Electrophysiology suggested that the myoclonus was of subcortical origin. Genetic analysis of the TH gene revealed compound heterozygosity of a point mutation in the promoter region (c.1-71 CϾT) and a novel nonsynonymous substitution in exon 12 (c.1282GϾA, p.Gly428Arg). The latter is a novel variant, predicted to have a deleterious effect on the TH protein function and is the first pathogenic TH mutation in patients of African ancestry. Conclusion:We presented a THD family with predominant myoclonus-dystonia and a new genotype. It is important to consider THD in the differential diagnosis of myoclonus-dystonia, because early treatment with levodopa is crucial for these patients. Tyrosine hydroxylase deficiency (THD) is a rare autosomal recessive, dopa-responsive dystonia due to mutations in the TH gene.1 The phenotype of THD is thought to be a spectrum with overlap of clinical features between 2 main phenotypes 2 : one with onset of symptoms in the first year presenting as progressive hypokinetic-rigid syndrome, generalized dystonia, and good response to levodopa and the other with earlier onset presenting as a more complex encephalopathy, perinatal abnormalities, diurnal fluctuations, autonomic disturbances, and less response to levodopa.3-7 Here we present a new family with THD and a new phenotype of prominent levodopa-responsive myoclonus-dystonia (M-D) due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation in the other allele, thus expanding the clinical and genetic spectrum of this disorder.METHODS Standard protocol approvals, registrations, and patient consents.

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“…Our proposed flow chart (figure 1) differs from existing algorithms in that certain commonly used processing steps have been omitted, such as age at onset, temporal pattern (eg, persistent or paroxysmal), associated features and mode of inheritance 2 35 36. Indeed, ‘pattern recognition’ based on these features has been important in the delineation of dystonia disorders and can still be successful in identifying classical phenotypes, especially by experts in the field 1 8.…”

Section: Discussionmentioning

confidence: 99%

“…Owing to the extraordinarily broad range of possible causes of DC, several algorithms have been developed to assist clinicians in making diagnostic decisions 2 35 36. These algorithms are not widely applicable as they mainly focus on (rare) neurometabolic causes and do not make use of the availability of NGS methodologies.…”

Section: A New Diagnostic Algorithmmentioning

confidence: 99%