100 children with acute ataxia; a survey in Mofid children's hospital

The term "Ataxia" refers to disturbances of body posture and movement that are normally controlled by the cerebellum, frontal lobes and the posterior columns of the spinal cord. The primary symptom and the most prominent feature of ataxia is abnormal gait which is characterized by lurching and wide base walking. Ataxia was considered acute, if it had occurred within the two preceding weeks. Knowing how frightening acute-onset Ataxia is for the family is not surprising that the condition prompts an immediate visit to the physician. In view of the lack of information in our country, on the etiology of sudden-onset Ataxia, the authors enrolled 100 children with the chief complaint of acute loss of equilibrium, who came to the attention of the Pediatric Neurology Department over a two year duration [Sept.2001-Sept 2003]; they were admitted to the Mofid Children's' Hospital and all necessary investigations were carried out. The results revealed that Acute Cerebellar Ataxia was the most common cause of the problem, the second most frequent being drug intoxication, which most commonly occurred in patients, 2-4years old. The remaining causative factors in order of descending frequency consisted of infectious polyneuropathy, migraine, opsoclonus-myoclonus, brain tumor, acute disseminated encephalomyelitis, multiple sclerosis, and epilepsy

Molecular investigation of Leber's hereditary optic neuropathy common mutation in suspected patients

LHON is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss sually in a short period of 2-8 weeks within which different degrees of blindness may occur. Etiologically, more than twenty missense mutations have been reported for LHON, amongst which the three mutations of G11778A, G3460A and T14484C, affecting NADH dehydrogenase complex activity, are recognized as primary mutations. The three primary mutations account for 90% of LHON patients, emphasizing the importance of molecular investigation of these mutations for differential diagnosis of LHON. Using PCR-RFLP, this research resulted in the detection of two LHON families carrying the G11778A mutation in homoplasmy and described the clinical and molecular features of the disease in the patients