ABSTRACT
OBJECTIVE: The objective of this study was to evaluate the clinical usefulness of whole-body magnetic resonance imaging (MRI) in facio-scapulo-humeral muscular dystrophy (FSHD). METHODS: In 20 patients with genetically proven FSHD1, we prospectively assessed muscular involvement and correlated the results of semi-quantitative manual muscle testing and other parameters such as disease duration, creatine kinase (CK) levels and repeat length of the D4Z4 locus with whole-body MRI. RESULTS: Clinical muscle testing revealed the trapezius, pectoralis and infraspinatus as the most severely affected muscles in the shoulder, and the knee flexors and gluteus medius in the hip girdle. MRI revealed the trapezius and serratus anterior muscles in the shoulder, and the hamstrings and adductor muscles in the hip girdle, as the most severely affected muscle groups. Overall, degrees of fatty degeneration on MRI scans correlated significantly with clinical weakness. Moreover, we could detect clear affection of the trunk muscles. Corresponding to earlier reports, asymmetric involvement was frequent in both clinical examination and MRI scoring. Moreover, MRI revealed inhomogeneous muscle degeneration in a considerable proportion of both, muscles and patients. Both clinical and MRI scores significantly correlated to disease duration, but not to fragment size or CK levels. CONCLUSION: Fatty degeneration in whole-body MRI correlates well to clinical muscle testing of the extremities but gives more information on deeper or trunk muscles. It shows structural changes in muscular disorders and may become an excellent tool for assessment of muscle involvement and follow-up studies.
Subject(s)
Magnetic Resonance Imaging/methods , Muscle, Skeletal/diagnostic imaging , Muscular Dystrophy, Facioscapulohumeral/diagnosis , Muscular Dystrophy, Facioscapulohumeral/pathology , Physical Examination/methods , Whole Body Imaging/methods , Adolescent , Adult , Aged , Child , Female , Humans , Image Enhancement/methods , Image Interpretation, Computer-Assisted/methods , Male , Middle Aged , Muscle Strength , Reproducibility of Results , Sensitivity and Specificity , Young AdultABSTRACT
BACKGROUND: Intracerebral hemorrhage (ICH) with intraventricular extension (IVH) is a devastating disease with a particular high mortality. In some aspects, IVH may resemble subarachnoid hemorrhage. The incidence and role of cerebral vasospasm in ICH with IVH are poorly understood. Here, we aimed to analyze the incidence and relationship of cerebral vasospasm to clinical characteristics, in-hospital mortality, and functional outcome at 3 months in patients suffering ICH with IVH. METHODS: Patients with ICH and IVH treated on a neurological intensive care unit were prospectively enrolled in a single-center observational study. Vasospasm was defined using established ultrasound criteria. Delayed cerebral ischemia (DCI) was defined as a new hypodensity on follow-up cranial CT. Functional outcome at 3 months was assessed using the modified Rankin Scale. RESULTS: 129 patients with ICH and IVH were screened for the study. 62 patients entered the final analysis. The incidence of significant vasospasm was 37 %. A strong trend was found for the association between all cerebral vasospasm and DCI (P = 0.046). Early (up to 48 h) vasospasm was significantly associated with a DCI (P = 0.033). Overall mortality and outcome after 3 months did not differ between the groups. CONCLUSION: Cerebral vasospasm seems to be a frequent complication after ICH with IVH and might be associated with DCI. Larger studies are warranted to confirm this hypothesis.
Subject(s)
Brain Ischemia/mortality , Cerebral Hemorrhage/mortality , Cerebral Ventricles/physiopathology , Critical Care , Vasospasm, Intracranial/mortality , Adult , Aged , Brain Ischemia/physiopathology , Cerebral Hemorrhage/physiopathology , Female , Hospital Mortality , Humans , Incidence , Male , Middle Aged , Recovery of Function/physiology , Retrospective Studies , Vasospasm, Intracranial/physiopathologyABSTRACT
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43. OBJECTIVE: To investigate the minimal CAG/CAA expansion within the TBP in SCA17. RESULTS: 285 patients with autosomal-dominant ataxia were examined, and abnormal or borderline expansions of CAG/CAA within TBP in eight cases were found. Of those, four patients from three families had exactly 42 CAG/CAA trinucleotides, that is, one codon less than the currently accepted critical threshold of 43. The four patients presented with a relatively benign phenotype. All had dysdiadochokinesia and dysarthria. Mild gait ataxia was observed in three of the four patients. CONCLUSION: The reference definition of at least 43 CAG/CAA codons for pathological SCA17 alleles should be lowered to 42.