An atypical case of neuro-Whipple: Clinical presentation, magnetic resonance spectroscopy and follow-up.

We report a case of a 53-year-old man with a 2-year history of progressive gait and balance disturbance, supranuclear ophthalmoparesis, mild dysarthria and dysmetria. EMG revealed a lower limb axonal sensory-motor neuropathy, while MR imaging demonstrated a small focal lesion in the right frontal lobe, mild diffuse hyperintensity of the periventricular white matter and diffuse brain atrophy. Magnetic resonance spectroscopy revealed a mild decrease in N-acetyl-aspartate peak and an increase in the choline peak in the small right frontal lesion and within 6 voxels of interest in normal appearing cerebral tissue.

Drug adverse events and drop-out risk: a clinical case.

We report a brief discussion on a clinical case of a female patient, 85 years old, affected by severe cognitive impairment and chronic obstructive pulmonary disease (COPD). The patient was not taking drugs at home (apart from promazine: 10 drops when necessary to control her behavioral diseases). A previous neuropsychological evaluation had shown a severe cognitive impairment MMSE=16/30; ADL=3/6; IADL=0/8) due to multiple brain ischemic areas (confirmed in 2003 by MRI neuroimaging).

Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.

An epidemiological survey of Charcot-Marie-Tooth disease (CMT) was conducted in Molise, a central-southern region of Italy, from March 1998 to June 2000. Fifty-eight cases of CMT in 13 unrelated families were identified within the selected area. The prevalence of all subtypes of CMT was 17.

Pre-perceptual pain sensory responses (N1 component) in type 1 diabetes mellitus.

We investigated the integrity of the ascending pathways for pain sensitivity in the early stage of type 1 diabetes mellitus, by measuring the N1 component and the conventional N2/P2 vertex potentials of laser evoked potentials (LEPs). Brain responses to laser stimuli were obtained in 21 healthy volunteers and 21 type 1 diabetic patients, without either clinical neuropathy or electrophysiological evidence of large-fiber damage. In diabetic patients N1 and P2 latencies were prolonged and the N1 and N2/P2 amplitudes were decreased after foot stimulation.

Respiratory chain defects in hereditary spastic paraplegias.

Hereditary Spastic Paraplegias (HSPs) are heterogeneous neurodegenerative disorders whose etiopathogenesis is still unclear. The identification of pathogenic mutations in a gene (SPG7) encoding a mitochondrial metalloprotease suggested that oxidative phosphorylation (OXPHOS) alterations might underlie HSP in a subgroup of patients. We performed clinical, morphological, biochemical, and molecular genetic studies in six HSP patients and in six sporadic patients to investigate OXPHOS in muscle biopsies.