Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients.

BACKGROUND AND PURPOSE: The aim of our study was to describe, by a case-control and cross-sectional design, the correlation between clinical impairment and age in Charcot-Marie-Tooth type 1A (CMT1A) patients. METHODS: Seventy CMT1A patients and 70 sex- and age-matched healthy controls were enrolled. Motor performance was assessed through the 10-m walk test, the 6-min walk test and the 9-hole peg test of the dominant and non-dominant side, and muscle strength was measured by using the Medical Research Council score. In the CMT1A group, disability and quality of life were evaluated using the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and the Short Form 36 (SF-36) questionnaire. Cross-sectional relationships between age and all clinical measures were analyzed and differences in the slopes between cases and controls were calculated. The occurrence of a structural change in the age-related progression of clinical measures was explored. RESULTS: The deterioration of motor performance correlated with age in both groups with a greater slope in CMT1A patients than controls. The deterioration of CMTNS and SF-36 correlated with age in the CMT1A group. The deterioration of all clinical measures with the exception of the SF-36 questionnaire showed a structural change at the 50th year of age. The rate of deterioration was no different between patients and controls until 50 years of age, whereupon it became significantly greater in CMT1A patients. CONCLUSION: Our study supports that the disease progression in CMT1A patients is an age-related process and the 50th year of age represents a critical moment after which the clinical decline becomes faster.

Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.

INTRODUCTION: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures. OBJECTIVE: Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene. METHODS: The Non-Motor Symptoms, the SCOPA-AUT, the Mayo Sleep Questionnaires and polysomnography were used to investigate non-motor signs (NMS), autonomic dysfunction and REM Behavioural Disorder (RBD). Cognitive functions were examined by an extensive battery of neuropsychological tests. In addition, motor and sensory nerve conduction studies and evoked laser potentials were performed. Cardiac sympathetic innervation was assessed in the two patients by (123)I-metaiodobenzylguanidine (MIBG) scintigraphy, computing early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR). RESULTS: Among the non-motor symptoms and autonomic signs, case 1 had cold intolerance, drooling and dysphagia, while case 2 had pain and urinary dysfunction. Both cases showed mood and behavioural disorders. RBD were not found, whereas the neuropsychological assessment revealed a progressive cognitive impairment. Neurophysiological studies revealed no abnormalities. Indexes of cardiac sympathetic innervation in the two patients did not differ from those of control subjects. CONCLUSIONS: Our findings expand the phenotypic profile of SYNJ1-related parkinsonism. Preserved cardiac sympathetic function and absence of RBD suggest that PARK20 should be explained by a pathogenic mechanism different from Lewy Body pathology, or that the latter is not as widespread as idiopathic Parkinson's disease.

Recurrent epistaxis following stabbing headache responsive to acetazolamide.

The co-occurrence of epistaxis and headache is not uncommon in migraine patients, although only few case reports have been published. A trigeminovascular activation may be causally involved although the exact mechanisms linking epistaxis and migraine remain unclear. Significant dural sinus stenosis may sustain or worsen an increased cerebral venous pressure and is considered a radiological predictor of idiopathic intracranial hypertension. We report a 49-year-old female patient with chronic migraine associated to stabbing headache-like attacks followed by epistaxis and by the resolution or the significant improvement of pain. As she also reported adjunctive symptoms suggestive of raised intracranial pressure and showed a bilateral narrowing of transverse sinuses at MR-venography, a possible intracranial hypertension was hypothesized despite the lack of papilledema. Acetazolamide 250 mg twice/day was added to therapy and the patient reported sudden reduction of headache severity and frequency and complete resolution of both the stabbing pain and the recurrent epistaxis, maintained for 5 months. At treatment discontinuation she complained the worsening of migraine headache and the reoccurrence of the superimposed stabbing pain followed by epistaxis. The mechanism linking the sequential occurrence of painful stabs, epistaxis and relief from pain with raised intracranial pressure in our patients remains unclear. We speculate that the sudden reopening of collapsed collateral veins of the anterior venous circle, possibly prompted by periodic waves of central venous hypertension coupled with intracranial hypertensive peaks, could explain the unusual strict time succession of painful stabs, epistaxis, and subsequent resolution of pain.

Semileaky waves in dielectric chirowaveguides.

The occurrence of semileaky waves in dielectric chirowaveguides is investigated. It is shown that a thinfilm dielectric chiroslabguide with an achiral superstrate and in which both the film and substrate are chiral can support semileaky modes radiating energy into the substrate, provided that the chirality parameters are properly chosen.