Krebs von den Lungen-6 (KL-6) in cerebrospinal fluid from neurosarcoidosis patients.

Background: Krebs von den Lungen-6 (KL-6) is a high molecular weight (MW) glycoprotein mainly secreted by type II pneumocytes because of lung damage or during regeneration. Neurosarcoidosis (NS), where sarcoid granulomas involve the nervous system, occurs in 5-20% of patients with sarcoidosis. No data is currently available on KL-6 in serum or CSF of NS patients.

A Novel Variant in Superoxide Dismutase 1 Gene () in Als Patients with Pure Lower Motor Neuron Presentation.

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disorder characterized by degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. Most cases of ALS appear sporadically, but 5-10% of patients have a family history of disease. Mutations in the superoxide dismutase 1 gene () have been found in 12-23% of familial cases and in 1-2% of sporadic cases.

A new mutation in DNM2 gene in a large Italian family.

The Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy with great clinical and genetic heterogeneity. Mutations in DNM2 have been associated with CMT dominant intermediate B (CMTDIB). However, mutations in the same gene are known to induce also axonal CMT (CMT2M) or centronuclear myopathy.

Sustained response to subcutaneous immunoglobulins in chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA): report of two cases and review of the literature.

Introduction: Chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA) is a rare disorder for which the pathological, neurophysiological, and therapeutic evidence remains anecdotal and controversial.

Methods: This report on CANDA focuses on the neurophysiological patterns and treatment responses shared by two cases. One patient underwent nerve ultrasound follow-up.