Diagnostic yield by testing small fiber function in patients examined for polyneuropathy.

We assessed the diagnostic yield of adding quantitative sensory testing to the standard work-up for polyneuropathy in unselected patients. All patients aged 18 to 70 years referred to our department for electrodiagnosis with a tentative diagnosis of polyneuropathy and symptoms complying with predefined criteria were included in the study. We performed near nerve conduction studies in 4 nerves and determined heat and cold detection thresholds on hand and foot with a Thermotest (Somedic AB, Sweden).

Evaluation of patients with symptoms suggestive of chronic polyneuropathy.

Objectives: The aim of this study was to determine the diagnostic yield and to describe the spectrum of diagnosis encountered by evaluation of patients with symptoms suggestive of chronic polyneuropathy.

Methods: We prospectively evaluated 198 patients referred to a department of neurology with symptoms suggestive of polyneuropathy. The evaluation included nerve conduction studies with near-nerve technique, quantitative examination of temperature sensation, blood tests, chest x-rays, and skin biopsies as well as diagnostic tests for differential diagnoses.

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.

Mutation in the presenilin-1 (PS-1) gene at chromosome 14q24.3 is the most common cause of autosomal dominant early-onset Alzheimer's disease. Here, we report a novel missense mutation in the presenilin-1 gene found in a three-generation Danish family with autopsy-verified early-onset Alzheimer's disease.

[Ballism in systemic lupus erythematosus].

A case of systemic lupus erythematosus (SLE) with ballism is presented. The movement disorders, as a group, account for approximately 2% of the neurological and psychiatric symptoms of central nervous system (CNS) involvement in SLE, and more than any of the other neuro-psychiatric manifestations they tend to precede the diagnosis of SLE. Ballism and other rare movement disorders are not included in the 1982 revised American Rheumatism Association criteria for SLE.