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BACKGROUND Camptocormia, characterised by extreme forward flexion of the thoracolumbar spine and severe stooping in the supine position, seems to be prevalent in Parkinson's disease. OBJECTIVE The aim of this study was to identify features of parkinsonian camptocormia and to describe the main clinical characteristics of patients with Parkinson's disease(More)
OBJECTIVE To report a family with X-linked Charcot-Marie-Tooth disease (CMTX) with proven connexin 32 (Cx32) mutation associated with deafness. METHODS Twelve members of a CMTX family were examined clinically. Electromyography and sensory and motor conduction studies were performed in three men, two women, and a 7-year-old boy. Audiometric testing was(More)
BACKGROUND The frequency of the association between chronic demyelinating inflammatory polyneuropathy (CIDP) and central nervous system (CNS) demyelinating lesions is probably underestimated. OBJECTIVE To investigate the occurrence of combined central and peripheral demyelination in CIDP patients and to correlate visual evoked potential (VEP)(More)
OBJECTIVE To evaluate the diagnostic usefulness of provocative tests, Doppler ultrasonography, electrophysiological investigations, and helical computed tomography (CT) angiography in thoracic outlet syndrome (TOS). PATIENTS AND METHODS We prospectively evaluated 48 patients with a clinical suspicion of thoracic outlet syndrome. Standardized provocative(More)
We report the first European tibial muscular dystrophy (TMD) family outside the Finnish population. Clinical examination showed late onset distal leg myopathy similar to the description of TMD. A molecular genetic study was made owing to the very recent TMD linkage findings on chromosome 2q31. All five clinically affected patients segregated a specific(More)
Polygraphic studies were performed over periods of 14 to 76 hours in 30 patients with reccent closed cranial injuries. Correlations between ICP and EEG findings were rarely found (3/16) in cases of cerebral dysfunction of mesodiencephalic or lower levels, where both ICP and EEG were usually stable. Correlations are regularly found in diencephalic or higher(More)
INTRODUCTION The camptocormia (bent spine) is characterized by a severe forward flexion of the thoracolumbar spine which disappears in the supine position. Clinical case. We describe a typical case observed in a parkinsonian patient. The MRI, electromyogram and biopsy of the paraspinal muscles revealed a typical myositis pattern. DISCUSSION This case, the(More)
We compared autonomic function in patients with multiple system atrophy (MSA) or with idiopathic Parkinson's disease (IPD) by measuring sympathetic skin response (SSR) and R-R interval variability (RRIV). SSR was investigated in 26 patients (13 with MSA and 13 patients with IPD). RRIV during deep breathing, Valsalva maneuver, and on standing was(More)
Various myopathies are described associated with tubular aggregates. However, in several cases tubular aggregates constitute the main structural feature allowing to consider myopathy with tubular aggregates as a distinct entity. A 50-year-old woman whose parents were consanguinous, presented frequent falls. She walked only after 18 months of age and did(More)