Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist

Italie

Pizzorusso Alessandro, Pereon Patrick. Italie. In: Annuaire international de justice constitutionnelle, 21-2005, 2006. Constitutions nationales et Constitution européenne – Autonomies locales et Constitutions. pp. 191-199

Deuxième partie - Justice constitutionnelle, droit administratif, vie politique et institutionnelle. La jurisprudence de la Cour constitutionnelle en matière d'environnement en 1994 et en 1995

Caravita Beniamino, Morrone Andrea, Elie Marie-Pierre, Pereon Patrick. Deuxième partie - Justice constitutionnelle, droit administratif, vie politique et institutionnelle. La jurisprudence de la Cour constitutionnelle en matière d'environnement en 1994 et en 1995 . In: Annuaire international de justice constitutionnelle, 11-1995, 1996. Le statut constitutionnel des juges du siège et du parquet - Constitution et médias. pp. 870-888

Première partie - La justice constitutionnelle en 1994

Casavola Francesco Paolo, Escarras Jean-Claude, Elie Marie-Pierre, Fumaroli Véronique, Pardini Jean-Jacques, Pereon Patrick, Ricci Roland, Richard Pascal. Première partie - La justice constitutionnelle en 1994. In: Annuaire international de justice constitutionnelle, 10-1994, 1995. Révision de la Constitution et justice constitutionnelle - Les droits constitutionnels des étrangers. pp. 608-657

Première partie - La justice constitutionnelle en 1995

Ferri Mauro, Baudrez Maryse, Fougerouse Jean, Duvigneau F., Elie Marie-Pierre, Fumaroli Véronique, Pardini Jean-Jacques, Pereon Patrick, Ricci Roland, Richard Pascal. Première partie - La justice constitutionnelle en 1995 . In: Annuaire international de justice constitutionnelle, 11-1995, 1996. Le statut constitutionnel des juges du siège et du parquet - Constitution et médias. pp. 820-869

Italie

Équipe du CDPC Jean-Claude Escarras, Baudrez Maryse, Di Manno Thierry, Pardini Jean-Jacques, Boyer Alain, Eue M.-P., Jacquelot Fanny, Ravaz Bruno, Schmitt Sylvie, Severino Caterina, Bourilhon Grégory, Santolini Thierry, Aubert S., Pereon Patrick. Italie. In: Annuaire international de justice constitutionnelle, 22-2006, 2007. Autonomie régionale et locale et constitutions - La répartition des compétences normatives entre le parlement et le gouvernement. pp. 801-836

Italie

Équipe du CDPC Jean-Claude Escarras, Baudrez Maryse, Di Manno Thierry, Fumaroli Véronique, Meyer-Heine A., Pardini Jean-Jacques, Ravaz Bruno, Sanz de Alba Pierre, Bouisson S., Elie Marie-Pierre, Giudicelli Julien, Pereon Patrick, Schmitt Sylvie. Italie. In: Annuaire international de justice constitutionnelle, 16-2000, 2001. Constitution et secret de la vie privée - Constitution et religion. pp. 751-840

Italie

Équipe du CDPC Jean-Claude Escarras, Baudrez Maryse, Di Manno Thierry, Pardini Jean-Jacques, Ravaz Bruno, Fumaroli Véronique, Meyer-Heine A., Richard Pascal, Pereon Patrick, Giudicelli Julien, Schmitt Sylvie, Weier E., Martello C. Italie. In: Annuaire international de justice constitutionnelle, 17-2001, 2002. Immunités constitutionnelles et privilèges de juridiction - Interprétation de la Constitution par le juge constitutionnel. pp. 633-679

Italie

Équipe du CDPC Jean-Claude Escarras, Baudrez Maryse, Di Manno Thierry, Pardini Jean-Jacques, Ravaz Bruno, Elie Marie-Pierre, Jacquelot Fanny, Schmitt Sylvie, Severino Caterina, Giudicelli Julien, Bourilhon Grégory, Pereon Patrick, Martello C., Aubert S., Durand E., Falduto Jean-Baptiste, Morales V., Roudier Karine, Picault L., Bardin Michaël, Pennec Laurent, Santolini Thierry. Italie. In: Annuaire international de justice constitutionnelle, 21-2005, 2006. Constitutions nationales et Constitution européenne – Autonomies locales et Constitutions. pp. 583-642

Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase II Trial

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