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Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) --> adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G --> A transition mutation is causally related to LHON and spasticity/dystonia.

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Disturbances of hearing in multiple sclerosis patients have been variably reported, likely because standard audiologic testing emphasizes assessment of peripheral, rather than central, auditory function. This study investigated a group of patients with multiple sclerosis (MS), prospectively selected on the basis of magnetic resonance imaging (MRI) scans. Five of these patients had demyelinating lesions that included the rostral auditory fibre tracts, while another seven patients had lesions restricted to brainstem auditory sites. A further four had no lesions in the distribution of their auditory pathways. A comprehensive battery of audiometric tests, including standard audiometry and retrocochlear testing, was performed. In addition, their findings on electrophysiologic testing, including auditory brainstem responses (ABR) and middle latency responses (MLR), were studied. Finally, their performances in gap detection and speech recognition in continuous and interrupted background noise were examined to assess their auditory temporal resolution. The MS patients were found to be selectively impaired under the interrupted masker of this speech-in-noise paradigm, confirming a temporal processing defect. Furthermore, these patients' performances suggested a predominant role of forebrain pathways in mediating auditory temporal resolution.

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Previous studies have reported variable prevalence of pain in multiple sclerosis (MS) and have not documented the impact of pain on daily living. In this consecutive series, we report on data collected from structured interviews with 85 patients seen within a 16-month period at a regional referral clinic. The prevalence of pain for the month preceding assessment was 53%. There were no significant differences between patients who did and those who did not report pain on the basis of patient demographics (age, gender) and disease characteristics (disease subtype, duration and neurologic symptom severity). Disease duration and neurologic symptom severity were significantly correlated with the number of hours of pain per week but were not correlated with pain severity, the number of pain sites or pain-related distress. There was wide variability in the number of pain hours/week reported with 17.6% of the sample reporting continuous pain for the month preceding assessment. Sixty-five percent of patients with pain reported taking medications for pain and 90% of these patients evaluated their medication(s) as 50% effective or better. Nevertheless, patients with pain reported poorer mental health and more social-role handicap. Discussion focuses on the need for routine assessment of pain and the comprehensive evaluation of the effectiveness of pain interventions in the therapeutic management of patients with MS.

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We studied the relationship between the CSF protein concentration and the degree of elevation of the CSF opening pressure in 177 patients with idiopathic intracranial hypertension (pseudotumor cerebri). There was no linear correlation between the CSF protein and opening pressure. In addition, low CSF protein (less than 20 mg/dl) was present in only 26% of the patients. Our findings fail to confirm previous reports of an inverse relationship between the CSF opening pressure and CSF protein as well as low CSF protein in these patients.

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Disorders of the paranasal sinuses, particularly the sphenoid sinus, can be associated with significant disorders of the optic and other cranial nerves. We examined 100 consecutive routine CT scans, 100 posterior fossa CT scans, and 100 MR scans to look for evidence of sinus disease, especially of the sphenoid sinus. The sphenoid sinus was abnormal in 7% of scans by all methods. Other sinuses were more frequently abnormal, including maxillary (23%), ethmoid (34%), and frontal (16%). Although MR was more sensitive in detecting sinus inflammation in the ethmoid and maxillary sinuses, the frequency of visible sphenoid sinus abnormalities detected by MR was not significantly greater when compared with CT. Of those patients with abnormal sphenoid sinuses, 24% had visual problems associated with the abnormality.

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We report the case of a 26 year old obese woman who presented with intermittent headaches and blurred vision in her left eye (OS) and on clinical examination had an enlarged visual field blind spot OS with OS disc edema. After an extensive neurologic work up including two nondiagnostic lumbar punctures, a clinical diagnosis of OS anterior ischemic optic neuropathy was made. Gradual progression of visual field loss OS prompted reassessment of the diagnosis and intracranial pressure was confirmed to be markedly elevated by usage of a subarachnoid monitoring bolt, thus establishing the diagnosis of pseudotumour cerebri. An optic nerve sheath fenestration was performed OS with subsequent reversal of the progressive visual field loss.

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