Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.

Objective: To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication.

Design: Case series.

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A. The purpose of the present study was to optimize the genetic characterization of NDM in The Netherlands by analysing CLCN1 and SCN4A in tandem. All Dutch consultant neurologists and the Dutch Patient Association for Neuromuscular Diseases (Vereniging Spierziekten Nederland) were requested to refer patients with an initial diagnosis of NDM for clinical assessment and subsequent genetic analysis over a full year.

Chlamydia pneumoniae is a likely risk factor for ischemic stroke in young patients.

Recently, Chlamydia pneumoniae has been identified as a risk factor for atherosclerosis, cardiovascular disease, and stroke. In young patients the causes of stroke are more diverse, and remain unknown in about 30% of cases, despite thorough investigations. To find a possible relationship between C.

Lung-uptake and -washout of MIBG in sarcoidosis.

Background: The aim of this study was to evaluate the uptake and -washout of I-123 meta-iodobenzylguanidine (MIBG), reflecting norepinephrine metabolism, in the lungs in patients with sarcoidosis.

Methods: Lung I-123 MIBG kinetics was assessed in 43 patients with sarcoidosis. The range of disease duration was 1-16 years (median: 3 years).

Improvement of small fiber neuropathy in a sarcoidosis patient after treatment with infliximab.

We describe a patient with severe small fiber neuropathy (SFN) accompanied by autonomic involvement, who was experimentally treated with infliximab, an anti-tumour necrosis factor-alpha (TNF-alpha) therapy. Six months after this treatment was started his symptoms completely resolved. Until now they did not return.

Isolated spinal accessory neuropathy in an adolescent: a case study.

We describe a case of dynamic scapular winging due to trapezius muscle paresis following a sport-related injury of the accessory nerve. The typical clinical findings related to the peripheral nerve involved, the importance of neurophysiologic work-up, and possibilities for treatment are discussed.

Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients.

The clinical features of inclusion body myositis (IBM) were of minor importance in the design of consensus diagnostic criteria, mainly because of controversial views on the specificity of signs and symptoms, although some authors reported "typical" signs. To re-assess the clinical spectrum of IBM, a single investigator using a standard protocol studied a cohort of 64 patients cross-sectionally. Symptom onset was before the age of 50 years in 20% of cases.

Association of small fiber neuropathy with cardiac sympathetic dysfunction in sarcoidosis.

Background And Aim: Recently we found that small fiber neuropathy (SFN) occurs frequently in sarcoidosis. Autonomic dysfunction may be a feature of SFN. Since cardiac autonomic dysfunction has been identified as a strong predictor of morbidity and mortality, recognition of cardiac autonomic involvement is of clinical relevance.

Neurosarcoidosis: a clinical dilemma.

Sarcoidosis is an inflammatory multisystem disorder of unknown cause. Practically no organ is immune to sarcoidosis; most commonly, in up to 90% of patients, it affects the lungs. The nervous system is involved in 5-15% of patients.

Impact of pain in a Dutch sarcoidosis patient population.

Background And Aim: Although pain is prevalent in sarcoidosis, this has never been studied systematically. The aim of the present study was to evaluate the presence and impact of pain in sarcoidosis.

Methods: Members from the Dutch Sarcoidosis Society without co-morbidity (n = 821) participated in this study.