Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

Anheim, Mathieu; Maillart, Élisabeth; Vuillaumier‐Barrot, Sandrine; Flamand‐Rouvière, Constance; Pineau, Fanny; Ewenczyk, Claire; Riant, Florence; Apartis, Emmanuelle; Roze, Emmanuel

doi:10.1007/s00415-010-5702-5

Cited by 54 publications

(31 citation statements)

References 8 publications

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“…These results add to the growing documentation of positive effects of dietary treatment in GLUT‐1 DS . Of treatment other than diet, acetazolamide had a good effect on paroxysmal exercise‐induced dyskinesias in patient 8 and has previously been reported as an effective treatment . Thus, this may be an alternative treatment for dyskinesias when compliance with the diet is difficult.…”

Section: Discussionsupporting

confidence: 57%

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Ramm-Pettersen¹,

Nakken²,

Skogseid

et al. 2013

Develop Med Child Neuro

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Aim The aim of this study was to characterize patients diagnosed with glucose transporter protein‐1 deficiency syndrome (GLUT‐1 DS) clinically and genetically, and to evaluate the effect of treatment with the classic ketogenic or modified Atkins diet. Method We retrospectively studied medical records of 10 patients diagnosed with GLUT‐1 DS. Four females and six males with a median age of 15 years were included. Results The study illustrates the genetic and clinical heterogeneity of GLUT‐1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise‐induced dyskinesia. A point prevalence of GLUT‐1 DS in Norway was estimated as 2.6 per 1 000 000 inhabitants. Interpretation Although the long‐term prognosis in patients with GLUT‐1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome.

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Section: Discussionsupporting

confidence: 57%

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Ramm-Pettersen¹,

Nakken²,

Skogseid

et al. 2013

Develop Med Child Neuro

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“…Some patients rely on eating sweets or sugar to ease the paroxysms. Good response of PED to medication with acetazolamide was observed in a single patient with GLUT1-DS [ 75 ].…”

Section: Glucose Transport Protein Type 1 Defi Ciency Syndrome (Glut1mentioning

confidence: 90%

Genetics of Paroxysmal Dyskinesia

Brockmann

Rosewich

2015

Movement Disorder Genetics

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Paroxysmal dyskinesias (PxDs) constitute a clinically and genetically heterogeneous group of rare conditions characterized by recurrent brief episodes of abnormal involuntary movements. PxDs may present with episodic choreic, ballistic, athetoid features or any mixture of dystonic symptoms. Current classifi cation of PxDs based on different precipitating factors recognizes three subtypes including paroxysmal kinesigenic (PKD), nonkinesigenic (PNKD), and exercise-induced (PED) dyskinesia. Neurological examination between the attacks is usually normal in these subtypes. However, PxDs occur as a distinct feature of complex chronic neurological disorders, comprising Glut1 defi ciency syndrome, MCT8 defi ciency (Allen-Herndon-Dudley syndrome), and ATP1A3-related conditions (alternating hemiplegia of childhood; rapid-onset dystonia-parkinsonism). Alliance of meticulous phenotyping with state-of-the-art methods of molecular genetics resulted in new insights concerning the genetic causes of PxDs.

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“…The response to treatment for PED is usually poor, posing a substantial burden to many families (see Video 2). Acetazolamide has been described as effective in a single Glut1D patient, but has failed in others . At this point, treatment remains experimental.…”

Section: Discussionmentioning

confidence: 99%

Paroxysmal Nonepileptic Events in Glut1 Deficiency

Klepper

Leiendecker²,

Eltze

et al. 2016

Movement Disord Clin Pract

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View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise‐induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow‐up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic‐dystonic, choreatiform, and dyskinetic‐dystonic nature of paroxysmal events. Fifty‐six evaluated questionnaires confirmed this observation in 73% of patients. Events appeared to increase with age, were triggered by low ketosis, sleep deprivation, and physical exercise, and unrelated to sex, hypoglycorrhachia, SLC2A1 mutations, or type of ketogenic diet. We conclude that paroxysmal events are a major clinical feature in Glut1 deficieny, linking the pediatric disease to adult Glut1D‐associated exercise‐induced paroxysmal dyskinesias.

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Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

Cited by 54 publications

References 8 publications

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Genetics of Paroxysmal Dyskinesia

Paroxysmal Nonepileptic Events in Glut1 Deficiency

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