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07) Late presentation of leucoencephalopathy with calcifications and cysts: report of two cases.

Richiedi questa pubblicazione: n. 07

Marelli C, Savoiardo M, Fini N, Bartolomei I, Marliani AF, De Gonda F, Agostinis C, Albini-Riccioli L, Marucci G, Giaccone G, Chiapparini L, Salvi F, Pareyson D.
J Neurol Neurosurg Psychiatry. 2008 Nov;79(11):1303-4. doi: 10.1136/jnnp.2008.148429.

Abstract:

Leucoencephalopathy with intracranial calcifications and cysts (LCC) is a rare disorder of unknown origin characterised radiologically by white matter abnormalities, calcifications and cysts with contrast enhancing nodules. Neuropathology reveals ‘‘angiomatous-like’’ rearrangements of microvessels and Rosenthal fibres (RF). The onset is almost invariably in early infancy to adolescence. Occurrence of disease in siblings suggests autosomal recessive inheritance. Neurological manifestations include cognitive decline, seizures, obstructive hydrocephalus, and progressive cerebellar, extrapyramidal and pyramidal signs. As some patients have visual disturbances and retinal vascular abnormalities resembling Coats’ disease, LCC has been linked to Coats plus syndrome, a rare disease characterised by retinal vascular abnormalities, leucoencephalopathy and calcifications without brain cysts. Systemic involvement is common with haematological, enteric, dermatological or skeletal abnormalities.
We describe two sporadic patients with late onset LCC.

06) Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry

Richiedi questa pubblicazione: n. 06

Della Nave R, Ginestroni A, Tessa C, Salvatore E, Bartolomei I, Salvi F, Dotti MT, De Michele G, Piacentini S, Mascalchi M.
Neuroimage. 2008 Mar 1;40(1):19-25. doi: 10.1016/j.neuroimage.2007.11.050. Epub 2007 Dec 14.

Abstract:

BACKGROUND AND PURPOSE: Neuropathological examination in Friedreich ataxia (FRDA) reveals neuronal loss in the gray matter (GM) nuclei and degeneration of the white matter (WM) tracts in the spinal cord, brainstem and cerebellum, while the cerebral hemispheres are substantially spared. Tract-based spatial statistics(TBSS) enables an unbiased whole-brain quantitative analysis of the fractional anisotropy (FA) and mean diffusivity (MD) of the brain WM tracts in vivo.

PATIENTS AND METHODS: We assessed with TBSS 14 patients with genetically confirmed FRDA and 14 age- and sex-matched healthy controls who were also examined with voxel-based morphometry (VBM) to assess regional atrophy of the GM and WM.

RESULTS: TBSS revealed decreased FA in the inferior and superior cerebellar peduncles and the corticospinal tracts in the medullary pyramis, in WM tracts of the right cerebellar hemisphere and in the right occipito-frontal and inferior longitudinal fasciculi. Increased MD was observed in the superior cerebellar peduncles, deep cerebellar WM, posterior limbs of the internal capsule and retrolenticular area, bilaterally, and in the WM underlying the left central sulcus. Decreased FA in the left superior cerebellar peduncle correlated with clinical severity. VBM showed small symmetric areas of loss of bulk of the peridentate WM which also correlated with clinical severity.

CONCLUSIONS: TBSS enables in vivo demonstration of degeneration of the brainstem and cerebellar WM tracts which neuropathological examination indicates to be specifically affected in FRDA. TBSS complements VBM and might be a more sensitive tool to detect WM structural changes in degenerative diseases of the CNS.

04) Charles Bonnet syndrome in hemianopia, following antero-mesial temporal lobectomy for drug-resistant epilepsy.

Richiedi questa pubblicazione: n. 04

Contardi S, Rubboli G, Giulioni M, Michelucci R, Pizza F, Gardella E, Pinardi F, Bartolomei I, Tassinari CA.
Epileptic Disord. 2007 Sep;9(3):271-5. Epub 2007 Sep 20.

Abstract:

BACKGROUND: Thalidomide is effective as a first-line therapy for the treatment of multiple myeloma (MM), but its use is limited by peripheral neurotoxicity.

OBJECTIVE: To study the occurrence of both myeloma-related neuropathy and thalidomide-induced neuropathy in 31 patients with newly diagnosed MM.

METHODS: Clinical and electrophysiologic examinations were performed in 31 patients with newly diagnosed MM before and after 4 months of therapy with thalidomide (200 mg/day, total dose: 21 g) aimed at debulking MM, before autologous transplantation. After transplantation, the patients took thalidomide, 200 mg/day for another 3 months (total dose over three months: 18 g) and then underwent a final clinical and electrophysiologic checkup.

RESULTS: At baseline, four patients presented a mild sensorimotor peripheral neuropathy related to MM, which tended to worsen slightly during treatment with thalidomide. At the end of treatment, 83% of the patients had clinical and electrophysiologic evidence of a mild sensory rather than motor, axonal, length-dependent polyneuropathy, whereas 100% of the patients showed improvement to the basic pathology (>or=partial response).

CONCLUSIONS: Peripheral neuropathy, sometimes subclinical, and mild in our patients, is a common, early side effect of thalidomide therapy. The high doses (21 g) used in all patients for a relatively short time (4 months) rule out any correlations between neuropathy, total dose, and duration of treatment.

03) Neuropathy in multiple myeloma treated with thalidomide: a prospective study.

Richiedi questa pubblicazione: n. 03

Plasmati R, Pastorelli F, Cavo M, Petracci E, Zamagni E, Tosi P, Cangini D, Tacchetti P, Salvi F, Bartolomei I, Michelucci R, Tassinari CA.
Neurology. 2007 Aug 7;69(6):573-81.

Abstract:

BACKGROUND: Thalidomide is effective as a first-line therapy for the treatment of multiple myeloma (MM), but its use is limited by peripheral neurotoxicity.

OBJECTIVE: To study the occurrence of both myeloma-related neuropathy and thalidomide-induced neuropathy in 31 patients with newly diagnosed MM.

METHODS: Clinical and electrophysiologic examinations were performed in 31 patients with newly diagnosed MM before and after 4 months of therapy with thalidomide (200 mg/day, total dose: 21 g) aimed at debulking MM, before autologous transplantation. After transplantation, the patients took thalidomide, 200 mg/day for another 3 months (total dose over three months: 18 g) and then underwent a final clinical and electrophysiologic checkup.

RESULTS: At baseline, four patients presented a mild sensorimotor peripheral neuropathy related to MM, which tended to worsen slightly during treatment with thalidomide. At the end of treatment, 83% of the patients had clinical and electrophysiologic evidence of a mild sensory rather than motor, axonal, length-dependent polyneuropathy, whereas 100% of the patients showed improvement to the basic pathology (>or=partial response).

CONCLUSIONS: Peripheral neuropathy, sometimes subclinical, and mild in our patients, is a common, early side effect of thalidomide therapy. The high doses (21 g) used in all patients for a relatively short time (4 months) rule out any correlations between neuropathy, total dose, and duration of treatment.

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