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1.
Mov Disord ; 22(9): 1328-31, 2007 Jul 15.
Article in English | MEDLINE | ID: mdl-17534980

ABSTRACT

Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition.


Subject(s)
Blepharospasm/genetics , Dystonia/genetics , Membrane Transport Proteins/genetics , Mutation/genetics , Orofaciodigital Syndromes/genetics , RNA Splice Sites/genetics , Adult , Blepharospasm/etiology , DNA Mutational Analysis/methods , Dystonia/etiology , Humans , Male , Mitochondrial Precursor Protein Import Complex Proteins , Orofaciodigital Syndromes/complications
2.
Mov Disord ; 21(2): 179-86, 2006 Feb.
Article in English | MEDLINE | ID: mdl-16161136

ABSTRACT

The disease-specific Unified Multiple System Atrophy Rating Scale (UMSARS) has been developed recently and validated for assessing disease severity in multiple system atrophy (MSA). Here, we aimed at (1) assessing rates of disease progression in MSA and (2) validating UMSARS for sensitivity to change over time. Impairment was assessed at two time points 12 months apart using UMSARS Part I (historical review), UMSARS Part II (motor examination), as well as measures of global disease severity, including UMSARS Part IV, Hoehn and Yahr (HY) Parkinson's disease staging, Schwab England Activities of Daily Living (SE ADL), and a three-point global Severity Scale (SS3). Fifty patients (male:female ratio, 1:0.9; possible MSA, 16%; probable MSA, 84%; MSA-parkinsonian, 58%; MSA-cerebellar, 42%) were assessed twice with an interval of 12.3 months. UMSARS II scores progressed by 57.3% (P<0.0001) and UMSARS I scores by 35.6% (P<0.0001) in relation to the respective baseline scores with no differences between motor subtypes, diagnostic categories and gender. Significant inverse correlations between (1) UMSARS I or UMSARS II progression and (2) baseline disability measures (i.e., the respective UMSARS or SS3 scores) and disease duration were found. Furthermore, the increases in HY staging, SE ADL and SS3 correlated significantly with UMSARS I, UMSARS II, and UMSARS IV progression. This report is the first prospective study showing rapid annual UMSARS rates of decline in MSA. Our data contribute to the ongoing validation process of UMSARS, and they facilitate the planning and implementation of future neuroprotective intervention trials.


Subject(s)
Multiple System Atrophy/diagnosis , Adult , Aged , Cerebellar Ataxia/diagnosis , Disability Evaluation , Disease Progression , Female , Follow-Up Studies , Humans , Male , Middle Aged , Neurologic Examination , Parkinsonian Disorders/diagnosis , Prospective Studies , Sensitivity and Specificity
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