Showing papers by "Giuseppe Lauria published in 2000"

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

Abstract: Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.

Clinical and magnetic resonance imaging findings in chronic sensory ganglionopathies.

Abstract: Twenty-two of 29 patients with chronic sensory ataxic neuropathy showed T2-weighted magnetic resonance imaging high signal intensity in the posterior columns of the cervical spine. T2 changes reflected the degeneration of central sensory projections and localized the disease process to T-shaped dorsal root ganglion neurons. No similar abnormalities were found in sensory and sensorimotor length-dependent axonal neuropathy patients. Spinal cord magnetic resonance imaging is a useful tool to support the clinical diagnosis of primary ganglionopathy.

Chronic cryptogenic sensory polyneuropathy.

Abstract: Design: Medical record review of patients evaluated for PN during a 2-year period. We defined CSPN on the basis of pain, numbness, and tingling in the distal extremities without symptoms of weakness. Sensory symptoms and signs had to evolve for at least 3 months in a roughly symmetrical pattern. Identifiable causes of PN were excluded by history, physical examination findings, and results of laboratory studies. We analyzed clinical and laboratory data from patients with CSPN and compared findings in patients with and without pain.

Spinal cord lesion due to epidural anesthesia.

Abstract: Sir: A 58-year-old woman underwent orthopedic surgery under lumbar epidural anesthesia (LEA) with catheter (0.5% marcain, 6 mg in a single dose) for left knee ligament rupture. The anesthesiologic chart reported that the needle was inserted through the L3-L4 intervertebral space while the patient was lying on her right side. Soon after needle insertion, the patient complained of an involuntary extension and a severe shooting pain of her left lower limb lasting a few seconds. Anesthetic procedure was otherwise uneventful and the operation was successfully carried out. Postoperatively, the patient complained of loss of sensation involving the abdomen below the umbilical line and the whole lower limb on the left side. Two days later, swelling and redness, but not pain, developed in the left leg and superficial thrombophlebitis was diagnosed. She also noted hypoesthesia of the anal canal on the left side during evacuation and mild urinary incontinence. She complained of weakness of her left leg when she was able to walk again. Two years after the onset of symptoms, the patient was referred to our institution for a diagnostic work-up. Neurological examination showed decreased muscular tone, mild weakness, and lack of deep tendon reflexes in the left lower limb. Left abdominal reflexes were absent and left G. Lauria • L. Chiapparini • D. Pareyson • A. Sghirlanzoni