32 Result(s)

Article

Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis

M. Brienza, G. Fiermonte, C. Cambieri… in Journal of Inherited Metabolic Disease (2015)

Article

Peripheral neuropathy in late-onset Krabbe disease: report of three cases

Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabb...

A. Malandrini, C. D’Eramo, S. Palmeri, C. Gaudiano, S. Gambelli… in Neurological Sciences (2013)

Article

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid

Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and possible association with certain genotypes and phenotypes are unclear. The effect of chronic administration of...

F. Ginanneschi, A. Mignarri, M. Mondelli, G. N. Gallus… in Journal of Neurology (2013)

Article

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

F. Sicurelli, M. A. Carluccio, F. Toraldo, M. Tozzi, A. Bucalossi… in Journal of Neurology (2012)

Article

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. Clinical phenotype is characterized by both...

A. Mignarri, S. Rossi, M. Ballerini, G. N. Gallus, M. Del Puppo… in Journal of Neurology (2011)

Article

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

S. Bianchi, A. Rufa, M. Ragno, C. D’Eramo, F. Pescini, L. Pantoni… in Journal of Neurology (2010)

Article

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

A. Tessa, G. Silvestri, M. F. de Leva, A. Modoni, P. S. Denora… in Journal of Neurology (2008)

Article

A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and ¹H-NMR spectroscopic studies

Short-chain-acyl-CoA-dehydrogenase (SCAD) deficiency is an inborn error of mitochondrial fatty acid metabolism caused by rare mutations as well as common susceptibility variations in the SCAD gene. We describe...

C. Battisti, F. Forte, M. Molinelli, S. Funghini, E. Pasquini… in Neurological Sciences (2007)

Article

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to defective activity of the mitochondrial enzyme sterol 27-hydroxylase. In 1991, sterol 27-hydroxylase gene (CYP27A1) was localised ...

G. N. Gallus, M. T. Dotti, A. Federico in Neurological Sciences (2006)

Article

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

E. Cardaioli, G. N. Gallus, P. Da Pozzo, A. Rufa, R. Franceschini… in Journal of Neurology (2006)

Article

Typical pathological changes of CADASIL in the optic nerve

Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is more common than previously thought. Deposits...

A. Rufa, A. Malandrini, M. T. Dotti, G. Berti, C. Salvadori… in Neurological Sciences (2005)

Article

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

Progressive lung infiltration is a major cause of death in Niemann–Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We repo...

S. Palmeri, P. Tarugi, F. Sicurelli, R. Buccoliero, A. Malandrini… in Neurological Sciences (2005)

Article

The spectrum of mutations for CADASIL diagnosis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13. T...

A. Federico, S. Bianchi, M. T. Dotti in Neurological Sciences (2005)

Article

Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDH apheresis

The concentrations of serum cholesterol, cholestanol and non–cholesterol sterols were measured in a patient with cerebrotendinous xanthomatosis under different therapeutic regimens. During treatment with chen...

M. T. Dotti*, D. Lütjohann*, K. von Bergmann, A. Federico in Neurological Sciences (2004)

Article

Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Wilson’s disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expresse...

C. Battisti, M. T. Dotti, G. Loudianos, V. Dessì, S. Battistini… in Neurological Sciences (2004)

Article

Genetic leukoencephalopathies with unknown metabolic pathogenesis

The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are us...

A. Federico, A. Rufa, C. Battisti, S. Bianchi, E. Cardaioli… in Neurological Sciences (2001)

Article

Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings

Cerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease involving lipid metabolism. The classical phenotype is characterized by neurological dysfunction, tendon xanthomas and...

M. T. Dotti, A. Rufa, A. Federico in Journal of Inherited Metabolic Disease (2001)

Article

Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease

N. De Stefano, M. T. Dotti, M. Mortilla, E. Pappagallo, P. Luzi… in Journal of Neurology (2000)