Biomedical subjects

S M Boesch

Publications and source records attributed to S M Boesch.

4 recordsLinked to original sources

PubMed2007

Cervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findings.

Eighteen patients from three large multigenerational families with genetically established spinocerebellar ataxia type 2 (SCA2) were examined, with special attention to the presence of dystonic features. Cervical dystonia (CD) was diagnosed according to standardised clinical criteria. CD was scored using the Tsui score. Polymyography was performed in six cases using bilateral surface electrode recordings of the sternocleidomastoid and trapezius muscles together with needle electrode recordings of the splenius capitis muscles bilaterally. CD was found in 11 of 18 patients (61%), and was the presenting symptom in one case. Severity of CD was mild to moderate, with Tsui scores ranging from 5 to 12 points. Polymyography in 6 of 11 SCA2 patients with CD showed the typical pattern of dystonia with spontaneous, involuntary muscle activation at rest in at least one neck muscle with disturbed reciprocal inhibition of antagonistic neck muscles. CD appears to be a common clinical feature in SCA2 and may precede ataxia and gait disturbance. By contrast, none of the 18 patients had dystonic features in other body regions. CD has probably been underreported in patients with the ataxic SCA2 phenotype and should be considered as an additional clinical manifestation in patients with hereditary ataxia.

Adult↗

PubMed2003

The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study.

Sneddon syndrome (SS) is increasingly recognised as a cause of ischaemic stroke in young adults. As the natural course of SS is not well defined, the authors performed a prospective six year clinical and neuroradiological follow up study. Thirteen patients with definite diagnosis of SS (livedo racemosa, characteristic skin biopsy, and history of stroke) entered a follow up programme that consisted of clinical examinations, two magnetic resonance imaging (MRI) investigations, and a comprehensive laboratory follow up protocol. The most frequent clinical findings during follow up had been headache (62%) and vertigo (54%). Seven patients (54%) suffered from transient ischaemic attacks, however, completed stroke has not been obtained during follow up. Progression of white matter lesions detected in MRI were present in 10 of 13 patients. Laboratory follow up protocol revealed transient antiphospholipid antibodies in two subjects. This prospective six year follow up study suggests a low incidence of territorial stroke but outlines progressive leucencephalopathy in patients with SS.

Adult↗

PubMed2002

Dystonia in multiple system atrophy.

OBJECTIVE: To delineate the frequency and nature of dystonia in multiple system atrophy (MSA). METHODS: A cohort of 24 patients with clinically probable MSA over the past 10 years were prospectively followed up. Motor features were either dominated by parkinsonism (MSA-P subtype, n=18) or cerebellar ataxia (MSA-C, n=6). Classification of dystonic features and their changes with time was based on clinical observation during 6-12 monthly follow up visits. Parkinsonian features and complications of drug therapy were assessed. Most patients (22/24) died during the observation period. Neuropathological examination was confirmatory in all of the five necropsied patients. RESULTS: At first neurological visit dystonia was present in 11 (46%) patients all of whom had been levodopa naive at this time point. Six patients (25%) exhibited cervical dystonia (antecollis) (MSA-P n=4, MSA-C n=2), five patients (21%) showed unilateral limb dystonia (MSA-P n=4; MSA-C n=1). A definite initial response to levodopa treatment was seen in 15/18 patients with MSA-P, but in none of the six patients with MSA-C. A subgroup of 12 patients with MSA-P developed levodopa induced dyskinesias 2.3 years (range 0.5-4) after initiation of levodopa therapy. Most patients had peak dose craniocervical dystonia; however, some patients experienced limb or generalised dystonia. Isolated peak dose limb chorea occurred in only one patient. CONCLUSION: The prospective clinical study suggests that dystonia is common in untreated MSA-P. This finding may reflect younger age at disease onset and putaminal pathology in MSA-P. Levodopa induced dyskinesias were almost exclusively dystonic affecting predominantly craniocervical musculature. Future studies are required to elucidate the underlying pathophysiology of dystonia in MSA.

Aged↗

PubMed2001

Proton magnetic resonance spectroscopic imaging reveals differences in spinocerebellar ataxia types 2 and 6.

The objective of this study was to investigate cerebellar metabolism in patients with autosomal dominant cerebellar ataxia type 1 (ADCA-I) carrying two distinct mutations of spinocerebellar ataxia (SCA). Non-invasive image-guided proton magnetic resonance spectroscopy imaging (1H-MRSI) was performed in 4 patients with SCA2, and 3 patients carrying the SCA6 mutation. For MRSI, we employed a spin-echo sequence (TR = 1500 msec, TE = 135 msec, slice thickness = 15 mm, FOV = 240 mm) and a stimulated-echo sequence (TR = 1500 msec, TE = 20 msec, slice thickness = 15 mm, FOV = 240 mm). Measures included the peak integral ratios of neuronal and glial markers [N-acetylaspartate (NA) to creatine (Cr), choline-containing compounds (CHO) to Cr, and lactate (LAC) to Cr]. We found NA:Cr ratios were significantly lower in patients with SCA2 (40.4% lower) compared to patients carrying the SCA6 mutation. CHO:Cr ratios differed between the two mutations using short echo time (30.8% lower in SCA2), but not when applying long echo time 1H-MRSI. Measurements using long echo time revealed LAC peaks in all SCA2 patients. 1H-MRSI revealed metabolic differences between SCA2 and SCA6 patients. NA:Cr ratios were significantly lower in patients with the SCA2 mutation compared to the SCA6 mutation, and LAC signals were obtained in the cerebella of SCA2 patients. In addition, CHO:Cr ratios showed different behavior using short and long TE, indicating differences in relaxation times of choline compounds in SCA2.

Adult↗