Glycogen Storage Diseases and Myoclonus

BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS: The initial assay of muta…

• FATİH SÜHEYL EZGÜ

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• ÇİĞDEM ÖZKARA

BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

• FATİH SÜHEYL EZGÜ

Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exc…

Estimates of the prevalence of essential tremor (ET) are probably low because screening questionnaires have been used. The authors estimated the prevalence of ET in Mersin Province, Turkey, in 2,253 individuals aged >or=40 years, all of whom were examined by study neurologists. There were 89 ET cases (prevalence = 4.0…

• OKAN DOĞU

Estimates of the prevalence of essential tremor (ET) are probably low because screening questionnaires have been used. The authors estimated the prevalence of ET in Mersin Province, Turkey, in 2,253 individuals aged >or=40 years, all of whom were examined by study neurologists. There were 89 ET cases (prevalence = 4.0…

• RESUL BUĞDAYCI

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• CAN EBRU KURT
• HACER DURMUŞ TEKÇE

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• RABİA CANDAN GÜRSES

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OBJECTIVE: Our aim was to assess the long-term follow-up of juvenile myoclonic epilepsy (JME), with an emphasis on the course of the myoclonic seizures. METHODS: We enrolled 48 patients with JME (29 F, 19 M; aged 39.9 +/- 9.5 years) followed up for a mean of 19.6 +/- 5.7 years. The remission for 5 years and relapses w…

• RABİA CANDAN GÜRSES

OBJECTIVE: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESUL…

• HÜLYA KAYSERİLİ KARABEY