From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Hully, Marie; Vuillaumier‐Barrot, Sandrine; Bizec, Christiane Le; Boddaert, Nathalie; Kamińska, Anna; Lascelles, Karine; Lonlay, Pascale de; Cancés, Claude; Portes, Vincent Des; Roubertie, Agathe; Doummar, Diane; LeBihannic, Anne; Degos, Bertrand; Saint‐Martin, Anne de; Flori, Elisabeth; Pedespan, Jean Michel; Goldenberg, Alice; Vanhulle, Catherine; Bekri, Soumeya; Roubergue, Anne; Héron, Bénédicte; Cournelle, Marie-Anne; Küster, Alice; Chenouard, Alexis; Loiseau, Marie-Noëlle; Valayannopoulos, Vassili; Chémaly, Nicole; Gitiaux, Cyril; Seta, Nathalie; Bahi‐Buisson, Nadia

doi:10.1016/j.ejmg.2015.06.007

Cited by 49 publications

(79 citation statements)

References 41 publications

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“…The movement disorder is known to appear in teenage years or in early adulthood (Figure 1) but nothing has yet been reported on the various types of paroxysmal movement disorders. 2,19,20 A possible explanation for the limited effects of the ketogenic diet in these kinds of movement disorders is the fundamental difference between glucose and ketones as metabolic fuels. Glucose passes through the glycolytic pathway whereas ketones are converted in the mitochondria directly to acetylCoA, so glycolytic intermediates are affected only by glucose, not ketones.…”

Section: Uncommon Manifestationsmentioning

confidence: 99%

“…Fatigue, weakness, lethargy, somnolence, and sleep disturbance are a common feature described in the medical history of these patients, especially in those with carbohydrate responsive GLUT1 deficiency syndrome, 8,19,29 where symptoms are accentuated in the case of fasting or hours after meals. Often the description of the event is not immediately reported by the patient but it must always be investigated in a suspected GLUT1 deficiency syndrome considering its discrete frequency of appearance.…”

Section: Uncommon Manifestationsmentioning

confidence: 99%

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Atypical Manifestations in Glut1 Deficiency Syndrome

et al. 2016

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Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis.

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Section: Uncommon Manifestationsmentioning

confidence: 99%

Section: Uncommon Manifestationsmentioning

confidence: 99%

Atypical Manifestations in Glut1 Deficiency Syndrome

et al. 2016

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“…In a French cohort of 58 patients with GLUT1 DS, 52 mutations occurred de novo and 6 were inherited (2). This clinical condition that results from a deficit in glucose transport to the brain, is associated with diverse symptoms including early-onset seizures, psychomotor retardation, and movement disorders.…”

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confidence: 99%

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome

et al. 2017

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“…Although some features (eg, seizures, cognitive impairment, and degree of symptom fluctuation) are more common or severe in AHC, and others are unique to AHC (including onset occurring before 18 months of age), AHC and rapid‐onset dystonia parkinsonism share the key clinical signs of abrupt onset, triggers, and persistent neurological deficits. From dopa‐responsive dystonia caused by GCH1 and other mutations to paroxysmal exertional dystonia caused by GLUT1 deficiency syndromes and mutations in SLC2A1 , ataxia‐telangiectasia caused by mutations in ATM , our perspective on phenotypes has broadened, and this trend will no doubt continue as undiagnosed patients increasingly undergo exomic and genomic sequencing.…”

Section: Etiopathogenesis Of Dystoniamentioning

confidence: 99%

Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions

et al. 2015

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Dr. Stanley Fahn, the H. Houston Merritt Professor of Neurology and Director Emeritus of the Center for Parkinson's Disease and Other Movement Disorders at Columbia University, one of the founders of the field of movement disorders, was the first president of the Movement Disorders Society (subsequently renamed as the International Parkinson and Movement Disorder Society). Together with his friend and colleague, Professor David Marsden, he also served as the first co-editor of the journal Movement Disorders. By emphasizing phenomenology as the key element in differentiating various hypokinetic and hyperkinetic movement disorders, Dr. Fahn drew attention to the clinical history and the power of observation in the diagnosis of movement disorders. Dr. Fahn had major influence on the development of classifications and assessments of various movement disorders and in organizing various research groups such as the Parkinson Study Group. As the founder and president of the World Parkinson Coalition and an organizer of the initial three World Parkinson Congresses, he has demonstrated his long-standing commitment to the cause of including patients as partners. The primary goal and objective of this invited review is to highlight some of Dr. Fahn's most impactful scientific and clinical contributions to the understanding and treatment of Parkinson's disease, dystonia, and other movement disorders.

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From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Cited by 49 publications

References 41 publications

Atypical Manifestations in Glut1 Deficiency Syndrome

Atypical Manifestations in Glut1 Deficiency Syndrome

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome

Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions

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