Acute amnestic syndrome in isolated bilateral fornix stroke.

BACKGROUND AND PURPOSE: Acute onset of amnestic syndrome may represent a challenging diagnostic issue. In addition to non-vascular etiology, thalamic strokes or infarction involving several temporal lobe structures have been reported. METHODS: We describe three patients in whom an isolated bilateral anterior fornix infarction presented with an acute amnestic syndrome. Clinical presentation, differential diagnosis and magnetic resonance images are discussed for each patient and vascular anatomy of the involved brain regions is also considered. RESULTS: Bilateral anterior columns of the fornix showed cytotoxic edema and bilateral narrowing of anterior cerebral artery was demonstrated. CONCLUSIONS: We suggest that bilateral fornix infarction should always be considered in the diagnostic work-up of an amnestic syndrome with acute onset.

Hub-and-spoke stroke network in the Veneto region: a retrospective study investigating the effectiveness of the stroke pathway and trends over time.

After recognizing the pivotal role played by stroke unit (SU) admission in reducing mortality and dependency in stroke patients, the need to organize and monitor stroke networks has become an increasingly essential aspect of stroke care. We conducted a retrospective study of stroke patients admitted to hospitals in the Veneto region from 2007 to 2015 in order to evaluate the effectiveness of the stroke pathway and trends over time. Between 2007 and 2015, 61,062 stroke patients were discharged from Veneto hospitals: they were more frequently female, females were older than males, and had higher intrahospital mortality and a lower probability of undergoing systemic thrombolysis. Patients admitted to facilities with a level 2 SU were twice as likely to undergo thrombolytic treatment compared to those admitted to facilities with a level 1 and had a lower intrahospital mortality rate. During the collection period, thrombolytic treatments increased in both level 1 and 2 SUs, as did the number of patients admitted to neurology wards and to facilities with an SU. Our study confirmed that thrombolytic treatment and admission to a facility with an SU are important determinants in improving stroke patient outcome. The increase in the proportion of both SU admissions and thrombolytic treatments demonstrates the effectiveness of the regional hub-and-spoke organization model, suggesting that implementation of highly specialized facilities is an efficient strategy in improving stroke care. The role of the observed sex bias in stroke treatment and outcome needs to be explored.

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

OBJECTIVE: Autosomal recessive limb girdle muscular dystrophies (LGMD type 2) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles. In order to describe the peculiar clinical features of LGMD2A (calpainopathy) and LGMD2B (dysferlinopathy), the most frequent forms of LGMD in European countries, we analysed and compared the phenotype and the clinical course in two relatively large groups of these patients. METHODS: We selected 22 patients with a molecular diagnosis of LGMD2A and 21 patients with LGMD2B and reported their clinical data collected from both clinical history and during periodical neuromuscular examinations: age and distribution of muscle involvement at onset, clinical functional score by the use of ten-point modified scale of Gardner-Medwin and Walton at onset and at last clinical examination, and the rate of disease progression. RESULTS: LGMD2A group included patients with different ages at onset (early-onset or late-onset), different phenotypes (upper girdle in Erb LGMD or lower girdle in Leyden-Moebius LGMD) and different disease progressions (rapid or slow course). LGMD2B patients differed for pattern of muscle involvement at onset (distal in Miyoshi dystrophy or proximal in Leyden-Moebius LGMD) but they had a rather homogeneous age at onset (in the second/third decade) and rate of disease progression. DISCUSSION: Our data show that besides the clinical differences within each group of patients, the two forms of LGMD present distinctive clinical features. The various phenotypes and courses can be attributed to specific pathogenetic mechanisms and might suggest differential therapeutic strategies.

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

BACKGROUND: Limb girdle muscular dystrophy type 2A (LGMD2A) is characterised by wide variability in clinical features and rate of progression. Patients with two null mutations usually have a rapid course, but in the remaining cases (two missense mutations or compound heterozygote mutations) prognosis is uncertain. METHODS: We conducted what is to our knowledge the first systematic histopathological, biochemical and molecular investigation of 24 LGMD2A patients, subdivided according to rapid or slow disease progression, to determine if some parameters could correlate with disease progression. RESULTS: We found that muscle histopathology score and the extent of regenerating and degenerating fibres could be correlated with the rate of disease course when the biochemical and molecular data do not offer sufficient information. Comparison of clinical and muscle histopathological data between LGMD2A and four other types of LGMD (LGMD2B-E) also gave another important and novel result. We found that LGMD2A has significantly lower levels of dystrophic features (ie degenerating and regenerating fibres) and higher levels of chronic changes (ie lobulated fibres) compared with other LGMDs, particularly LGMD2B. These results might explain the observation that atrophic muscle involvement seems to be a clinical feature peculiar to LGMD2A patients. CONCLUSIONS: Distinguishing patterns of muscle histopathological changes in LGMD2A might reflect the effects of a disease-specific pathogenetic mechanism and provide clues complementary to genetic data.