A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

…, R Rocchi, F Giannini, N Battistini, GC Guazzi… - Neurology, 1999 - AAN Enterprises
Objective: To search for mutations in the calcium channel gene CACNA1A and to study the
genotype–phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) …

IL-6 detection in multiple sclerosis brain

D Maimone, GC Guazzi, P Annunziata - Journal of the neurological …, 1997 - Elsevier
By using a double-label immunohistochemistry technique, we demonstrated the presence
of interleukin-6 (IL-6) in acute and chronic active plaques from the brain of six patients with …

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.

…, C Venturi, G Filosomi, GC Guazzi - American journal …, 1994 - Am Soc Neuroradiology
PURPOSE To describe the CT and MR findings in the brain and spinal cord of patients with
cerebrotendinous xanthomatosis and to seek possible correlations between clinical, …

Interleukin-6 levels in the cerebrospinal fluid and serum of patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy

…, P Annunziata, IL Simone, P Livrea, GC Guazzi - Journal of …, 1993 - Elsevier
Clinical and experimental findings suggest that humoral factors, such as anti-peripheral
nerve antibodies and cytokines, may be implicated in the immunopathogenesis of Guillain-Barré …

The clinical aspects of adult hexosaminidase deficiencies

…, G Fabrizi, M Mondelli, GC Guazzi - Developmental …, 1991 - karger.com
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM 2
gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron …

Involvement of peripheral sensory fibers in amyotrophic lateral sclerosis: Electro‐physiological study of 64 cases

…, A Rossi, S Passero, GC Guazzi - Muscle & Nerve: Official …, 1993 - Wiley Online Library
We report electrophysiological findings of conduction along peripheral sensory fibers in 64
patients with amyotrophic lateral sclerosis. Distribution of the values of action potential …

Cherry-red spot myoclonus syndrome (type I sialidosis)

…, N de Stefano, R Gatti, P Durand, GC Guazzi - Developmental …, 1991 - karger.com
The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot
myoclonus syndrome, derived from the cases personally observed and from the literature. …

Early synthesis and correlation of serum anti-thyroid antibodies with clinical parameters in multiple sclerosis

…, P Morana, E Guarino, S Borghi, GC Guazzi - Journal of the …, 1999 - Elsevier
A high frequency of anti-thyroid antibodies has been demonstrated in multiple sclerosis (MS),
but there is a lack of data on the possible association of thyroid autoimmunity with disease …

Axonal motor and sensory neuropathy in myotonic dystrophy

…, A Malandrini, PD Porta, GC Guazzi - Acta neurologica …, 1993 - Wiley Online Library
We report the neurophysiological findings from 24 subjects with myotonic dystrophy of Steinert
and the histological findings in two of them. The conduction data is compared with that of …

Hypoplasia of the corpus callosum in Niemann-Pick type C disease

S Palmeri, C Battisti, A Federico, GC Guazzi - Neuroradiology, 1994 - Springer
In two unrelated patients with Niemann-Pick type C disease MRI showed symmetrical
cerebral and cerebellar atrophy and hypoplasia of the corpus callosum. T2-weighted images …