Spatial impairment following right hemisphere transient ischaemic attacks in patients without carotid artery stenosis

Neuropsychological testing was performed on: 10 right-handed patients who had had 1-4 right hemisphere transient ischaemic attacks (TIAs), 10 normal controls, 10 house painters with long-term exposure to organic solvents, and 10 patients with liver cirrhosis. The subjects in each group were matched for age and education. No TIA patient had significant internal carotid artery stenosis, and CT was normal except in one patient, although magnetic resonance imaging (MRI) performed 3 years after the testing was abnormal in 4/8 cases. No patient reported additional distinct TIAs during the period between neuropsychological testing and MRI. The TIA patients showed lateralized signs of spatial impairment, whereas the cirrhotics and also (but to a lesser degree) the house painters showed signs of diffuse cerebral dysfunction. The study shows that hemispheric TIAs in patients without significant internal carotid artery stenosis may result in persistent focal cognitive impairment. This can be demonstrated with sensitive neuropsychological instruments even when MRI is normal

Kinetics of lung clearance of 99mTc-DTPA in smoking patients with sarcoidosis compared to healthy smokers.

Investigation of lung clearance of 99mTc-labelled diethylene triamine penta-acetic acid (DTPA) in smoking sarcoid patients has been impeded by difficulties to differ between pathology of clearance kinetics caused by sarcoidosis and by smoking. This study explores the kinetics of lung clearance of 99mTc-DTPA in 15 current smokers with intrathoracic sarcoidosis. The results are compared with findings from 16 healthy smokers. Measurements of lung clearance over 180 min, i.e. longer than usual, revealed in II of the sarcoid patients a bi-exponential lung clearance course, which is pathologic. All healthy smokers also showed a bi-exponential lung clearance. In the analysis of the bi-exponential curve an initial fast, and a slow clearance component could be separated. The smokers with sarcoidosis had a significantly higher elimination rate of the slow component than the healthy smokers. Thus, analysis of the late part of the lung clearance curve may be rewarding in smoking sarcoid patients. The study shows that lung clearance of 99mTc-DTPA may be a method useful also in smoking patients with sarcoidosis

Disturbances of speech prosody following right hemisphere infarcts

The ability to perceive and express emotional, as well as number of linguistic prosodic qualities of speech was tested in 20 Swedish-speaking patients with right-sided cortical, as well as purely subcortical brain infarcts, and in 18 normal controls. The infarcts were assessed by clinical neurological examination, and by CT, EEG, and measurements of regional cerebral blood flow (rCBF). In the patients the identification of emotional messages was disturbed, as well as the identification and production of several linguistic prosodic qualities. The study supports the claim that prosodic impairment could be linguistic in nature, and not secondary to affective disorder. The total degree of anatomical and functional disturbance of the right hemisphere played a role for both the ability to identify emotional messages and for identification of two of the linguistic prosodic qualities tested. However, it was not possible to find support for the hypothesis that the organization of prosody in the right hemisphere mirrors that of propositional speech on the left side

Do single right hemisphere infarcts or transient ischaemic attacks result in aprosody?

The ability to perceive and express prosodic qualities of speech was tested in 21 patients with a single focal ischaemic disturbance of the right hemisphere, 14 patients having an infarct and 7 transient ischaemic attacks, and in 21 age-matched normal controls. All patients were predominantly right-handed. None showed signs of aphasia. Pure tone audiometry showed acceptable hearing for speech. The cerebral lesions were assessed by clinical neurologic examination, and by CT, EEG and measurement of regional cerebral blood flow (rCBF) using intravenous 133-xenon. The prosodia test included items testing: the ability to perceive accentual and emotional qualities of speech, and the ability to express and vary such qualities. The test did not discriminate between the patients and the controls, although some patients had large right-sided lesions. This negative finding indicates that aprosody in patients with brain lesions appears more difficult to detect than has previously been assumed. Highly sensitive tests are most likely required

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

We describe the clinical characteristics of a Swedish family with autosomal dominant cerebellar ataxia, sensory and autonomic neuropathy, additional neurological features and unknown genetic cause

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The investigations included clinical examination, muscle histopathology and genetic analysis by whole exome sequencing and single nucleotide polymorphism arrays. All patients had adult onset muscle weakness in the pelvic girdle, neck flexors, respiratory and trunk muscles, and the majority had prominent calf hypertrophy. Examination of pulmonary function showed decreased vital capacity. No signs of cardiac muscle involvement were found. Muscle histopathological features included marked muscle fibre size variation, fibre splitting, numerous internal nuclei and fatty infiltration. Frequent groups of fibres showed eosinophilic inclusions and deposits. At the ultrastructural level, there were extensive myofibrillar lesions with marked Z-disc alterations. Whole exome sequencing in four individuals from one family revealed a missense mutation, g.274375T > C; p.Cys30071Arg, in the titin gene (TTN). The mutation, which changes a highly conserved residue in the myosin binding A-band titin, was demonstrated to segregate with the disease in all three families. High density single nucleotide polymorphism arrays covering the entire genome demonstrated sharing of a 6.99 Mb haplotype, located in chromosome region 2q31 including TTN, indicating common ancestry. Our results demonstrate a novel and the first disease-causing mutation in A-band titin associated with hereditary myopathy with early respiratory failure. The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations