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GLUT1 deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
GLUT1 deficiency was first described by De Vivo and colleagues in 1951 [1] with the report of two patients in whom infantile seizures, developmental delay, and acquired microcephaly were associated with low concentrations of glucose in the cerebrospinal fluid (CSF) despite normal concentrations of glucose in the blood. The concentrations of lactate in the CSF were also low. They postulated defective transport of glucose from the blood to the CSF. They showed that transport of glucose into isolated erythrocytes was lower than in control cells.
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Early-onset epilepsy and cognitive decline: Common causes: Lafora's disease.NCL.NPC.Uncommon causes: Sialidosis type 1 (cherry-red spot syndrome).Gaucher's disease (mainly type 3).GLUT1 deficiency.SPAX5 (AFG3L2 mutations).Familial encephalopathy with neuroserpin deposits.Autosomal recessive spastic ataxia of Charlevoix–Saguenay.C9ORF72 expansions.CERS1 deficiency.Congenital generalized lipodystrophy type 2.CACNA1A mutations.
Emerging therapeutic targets for epilepsy: preclinical insights
Published in Expert Opinion on Therapeutic Targets, 2022
Krzysztof Łukawski, Stanisław J. Czuczwar
Non-pharmacological approaches include epilepsy surgery, neurostimulation, dietary therapies and lifestyle changes [2,27]. Epilepsy surgery is an option only for patients with resectable single lesions causing epilepsy, such as hippocampal sclerosis [5]. Also, the age of a patient and medical comorbidities that increase the dangers of surgery must be considered within this treatment strategy of DRE [8]. Neuromodulation, an alternative treatment to epilepsy surgery, includes vagus nerve stimulation, deep brain stimulation and responsive neurostimulation [2]. Data on these modalities are limited and they tend to be palliative, rarely causing seizure freedom [8]. Different dietary therapies have been used in the treatment of DRE such as ketogenic diet, Modified Atkins Diet, Medium Chain Triglyceride diet, and low glycemic diet [8]. The ketogenic diet, a restrictive high-fat, low protein and very low carbohydrate diet, is a well-established treatment for children with DRE, particularly in those with glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS) [28]. However, the ketogenic diet constitutes a treatment with serious potential adverse effects, and often with difficulties in implementing and adhering to it [29]. Minimizing seizure triggers originated from lifestyle (alcohol, nicotine, caffeine, drugs of abuse, mental stress, emotional tension, strobe light, video games, etc) can help control seizures [27].
Therapeutic approach to difficult-to-treat typical absences and related epilepsy syndromes
Published in Expert Review of Clinical Pharmacology, 2021
Giovanni Mastroianni, Michele Ascoli, Sara Gasparini, Francesco Brigo, Vittoria Cianci, Sabrina Neri, Emilio Russo, Umberto Aguglia, Edoardo Ferlazzo
Ketogenic diet (KD) is a high-fat and low-protein and carbohydrate diet, with restricted calories and fluids. This diet mimics the fasting state, altering the metabolism to use fats as a primary fuel source, finally leading to liver production of ketone bodies (KB) [50]. KD is an established treatment for refractory absences in the GLUT1 deficiency syndrome. Of note, in a meta-analysis by Groomes et al. [51], seventeen previous ketogenic diet studies published from 1922 to 2009 were identified as having included subjects with CAE and JAE. In total, 133 children with absence epilepsy (treated with several ASMs including LTG, VPA, ESX, LEV, ZNS, TPM, CLB as monotherapy or in combinations) and clearly documented outcomes were available for review. Ninety-two of 133 (69%) patients were reported as having a > 50% seizure reduction, and 45 (34%) became seizure-free for some period of time. The time to KD response ranged from 3 days to 3 months, and the KD was continued for 9 weeks to 3 years. This meta-analysis demonstrated that KD may be a considerable non-pharmacological option in patients with difficult-to-treat Tas. KD may represent an option for TAs subjects presenting especially in patients with comorbidities like obesity, diabetes and migraine, considering its effectiveness for these conditions [52,53]
Paroxysmal movement disorders – practical update on diagnosis and management
Published in Expert Review of Neurotherapeutics, 2019
Claudio M. De Gusmao, Laura Silveira-Moriyama
Some authors have proposed additional investigations depending on the phenotype. For example, in paroxysmal exertional dyskinesia, a lumbar puncture can be helpful to determine CSF glucose, lactate, biogenic amines and pterin levels [140]. The procedure should be done after 4–6 h of fasting and blood should be obtained prior to the LP to avoid stress-induced hyperglycemia. Findings suggestive of GLUT1 deficiency syndrome include a low CSF glucose (≤10th percentile), CSF to blood glucose ratio ≤25th percentile and CSF lactate <90th percentile. Age-normative data have been published [141]. Low CSF HVA and 5-HIAA, coupled with low tetrahydrobiopterin levels are suggestive of a dopaminergic synthetic defect such as GCH1 deficiency. In older patients with a PED phenotype, a dopamine transporter scan may be informative as suggested by Erro et al. [140] If abnormal, it suggests the presence of an underlying parkinsonian disorder, such as idiopathic Parkinson’s disease or young-onset parkinsonism, which often has an underlying genetic etiology.