Ĭataplexy is defined as more than one episode of generally brief (< 2 min), usually bilaterally symmetrical sudden loss of muscle tone with retained consciousness, according to the third edition of the International Classification of Sleep Disorders (ICSD-3). However, early diagnosis is paramount for starting this treatment. Not until recently, miglustat, an effective pharmacological treatment, has been used from 2009 in EU and 2012 in Japan. This disease is categorized from the age at onset of neurological symptoms, peri/pronatal, early-infantile, late-infantile, juvenile and adolescent/adult-onset period. Cataplexy is often triggered by typical emotions (laughing, enjoying, joking and anger). Some cases frequently display narcolepsy-like symptoms, including cataplexy (about 26%). Symptoms include hepatosplenomegaly, vertical supranuclear saccadic palsy (VSSP), ataxia, dystonia, and dementia. NPC is associated with mutations in NPC1 and NPC2 genes with a minimal incidence calculated as 1:150,000 live births. Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids in the peripheral tissues and in the brain. Our study suggests that orexin measurements can serve as an early alert for potential NPC furthermore, they could be a marker of therapy monitoring during a treatment. ![]() In the cases without cataplexy, their orexin levels were normal. The NPC patients with cataplexy had low or intermediate orexin levels. Although the circuitry is unclear, this supports that orexin system is indeed involved in narcolepsy-cataplexy in NPC patients. However with Miglustat treatment, the orexin levels stabilized or improved, along with other general symptoms. Low or intermediate orexin levels could further decrease due to reduction in the neuronal function in the orexin system, accelerating the patients’ NPC pathophysiology. Our study indicates that orexin level measurements can be an early alert of potential NPC. The CSF orexin levels of NPC patients were significantly higher than those of patients with narcolepsy-cataplexy and lower than those of patients with idiopathic hypersomnia, which was considered as the control group with normal CSF orexin levels. For cases without Miglustat treatment, their conditions worsened generally. In 5 cases with Miglustat treatment, their symptoms stabilized or improved. In 4 cases without cataplexy, their orexin levels were normal. Six NPC patients with cataplexy had low or intermediate orexin levels. We compared CSF orexin levels among NPC, narcoleptic and idiopathic hypersomnia patients. NPC diagnosis was biochemically confirmed in all 10 patients, from which 8 patients with NPC1 gene were identified. Ten patients with NPC were included in the study (5 males and 5 females). ![]() In this current study, we examined CSF orexin levels in the 10 patients of NPC with and without cataplexy, which supports previous findings. Some cases frequently display narcolepsy-like symptoms, including cataplexy which was reported in 26% of all NPC patients and was more often recorded among late-infantile onset (50%) and juvenile onset (38%) patients. Symptoms include hepatosplenomegaly, vertical supranuclear saccadic palsy, ataxia, dystonia, and dementia. ![]() Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids.
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