1.
J Neurol
; 249(10): 1413-6, 2002 Oct.
Article
in English
| MEDLINE
| ID: mdl-12382159
ABSTRACT
A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3.
Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 14/genetics , GTP Phosphohydrolases/genetics , Genes, Dominant , Spastic Paraplegia, Hereditary/genetics , Adult , Age of Onset , Child , Child, Preschool , Female , GTP-Binding Proteins , Genetic Linkage , Haplotypes , Humans , Italy , Lod Score , Male , Membrane Proteins , Middle Aged , Pedigree , Spastic Paraplegia, Hereditary/physiopathology
2.
Mov Disord
; 22(8): 1204-6, 2007 Jun 15.
Article
in English
| MEDLINE
| ID: mdl-17486642
Subject(s)
Central Nervous System Viral Diseases/complications , Herpes Simplex/complications , Herpesvirus 1, Human/isolation & purification , Mesencephalon/virology , Tremor/physiopathology , Tremor/virology , Acyclovir/therapeutic use , Anticonvulsants/therapeutic use , Antiviral Agents/therapeutic use , Central Nervous System Viral Diseases/drug therapy , Clonazepam/therapeutic use , Combined Modality Therapy , Herpes Simplex/drug therapy , Humans , Magnetic Resonance Imaging , Male , Mesencephalon/pathology , Middle Aged , Severity of Illness Index , Tremor/drug therapy
3.
Ann Neurol
; 51(6): 794-5, 2002 Jun.
Article
in English
| MEDLINE
| ID: mdl-12112092