A case of hemichorea associated with nonketotic hyperglycaemia: A new magnetic resonance spectroscopy (MRS) finding and possible future implications.

BACKGROUND: Diabetic Striatopathy (DS) is a rare complication of a poor-controlled Diabetes Mellitus consisting of sudden onset of movement disorders. To date, there is still poor knowledge about the pathogenesis. CASE: We describe a 79 year old men affected by sudden onset hemichoreic movements whose cause was a non-ketotic hyperglycaemia diagnosed despite the normal blood glucose levels thanks to brain CT and magnetic resonance imaging. Then, we introduce a new magnetic resonance spectroscopy (MRS) finding never described until today which allowed us to produce a new pathogenetic theory of a phenomenon still without definitive explanations. LITERATURE REVIEW: We performed a review of DS cases using the Medline database and we extracted main data regarding imaging findings. CONCLUSIONS: Thanks to our MRS we show new imaging findings never described until today, with a new pathogenetic explanation, since all the causative hypotheses produced during the past years have never found evidence.

Phenotypic Variability in Acquired and Idiopathic Dystonia.

Background: To date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias. Objectives: To compare demographic data and clinical features in patients with adult-onset acquired and idiopathic dystonias. Methods: Patients were identified from among those included in the Italian Dystonia Registry, a multicenter Italian dataset of patients with adult-onset dystonia. Study population included 116 patients with adult-onset acquired dystonia and 651 patients with isolated adult-onset idiopathic dystonia. Results: Comparison of acquired and idiopathic dystonia revealed differences in the body distribution of dystonia, with oromandibular dystonia, limb and trunk dystonia being more frequent in patients with acquired dystonia. The acquired dystonia group was also characterized by lower age at dystonia onset, greater tendency to spread, lower frequency of head tremor, sensory trick and eye symptoms, and similar frequency of neck pain associated with CD and family history of dystonia/tremor. Conclusions: The clinical phenomenology of dystonia may differ between acquired and idiopathic dystonia, particularly with regard to the body localization of dystonia and the tendency to spread. This dissimilarity raises the possibility of pathophysiological differences between etiologic categories.

The impact of the reclusion on patients with blepharospasm during the COVID19 pandemic.

BACKGROUND: Blepharospasm (BS) is a focal dystonia that can be treated successfully with Botulinum toxin (BoNT). During the reclusion due to the Covid 19 pandemic many patients missed the scheduled treatment. OBJECTIVES: Aim of the study is to evaluate Level of Disability (LoD) related to BS during the lockdown period. METHODS: LoD was assessed by an adapted version of Blepharospasm Disability Index (4iBSDI) during reclusion (T1), and three months after the first injection following the lock down phase (T2). 4iBSDI scores were compared between T1 and T2, a correlation between the change of LoD in the two periods (t-delta) and patients' clinical data was analyzed. RESULTS: LoD was not modified between the two periods in most of the patients and it was reduced at T1 in almost one third of the participants. No correlation between t-delta and clinical data was found. CONCLUSIONS: LoD did not increase during the lock down period in most of BS patients although BoNT treatment was suspended. Environmental and psychosocial factors may contribute to determine the LoD due to BS.

Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site.

BACKGROUND: Adult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized. MATERIALS AND METHODS: We retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more. Survival analysis estimated the relationship between dystonia features and spread to a third body part. RESULTS: We identified 340 patients with segmental/multifocal dystonia involving at least two body parts. Spread of dystonia to a third body site occurred in 42/241 patients (17.4%) with focal onset and 10/99 patients (10.1%) with segmental/multifocal dystonia at onset. The former had a greater tendency to spread than patients with segmental/multifocal dystonia at onset. Gender, years of schooling, comorbidity, family history of dystonia/tremor, age at dystonia onset, and disease duration could not predict spread to a third body site. Among patients with focal onset in different body parts (cranial, cervical, and upper limb regions), there was no association between site of focal dystonia onset and risk of spread to a third body site. DISCUSSION AND CONCLUSION: Spread to a third body site occurs in a relative low percentage of patients with idiopathic adult-onset dystonia affecting two body parts. Regardless of the site of dystonia onset and of other demographic/clinical variables, focal onset seems to confer a greater risk of spread to a third body site in comparison to patients with segmental/multifocal dystonia at onset.

The Italian version of the quick mild cognitive impairment (Qmci-I) screen: normative study on 307 healthy subjects.

OBJECTIVE: To devise an Italian version of the quick mild cognitive impairment screen (Qmci) and to obtain normative data. METHODS: An Italian version of the Qmci screen (Qmci-I) was administered to 307 subjects free from cognitive impairment. The normative sample was divided into three age levels (50-59; 60-69 and 70-80 years) and four education levels (3-5; 6-8; 9-13; >13 years of school attendance). Multiple regression analyses were used to evaluate the effect of age, sex and schooling on Qmci-I scores (overall and by domains) and to calculate cut-off values, with reference to the confidence interval on the fifth centile. RESULTS: The mean Qmci-I score was 64/100 (SD = 11). The age variable showed a significant negative effect on the overall Qmci-I score, with older people performing worse than younger ones. Conversely, education was associated with higher scores. Significant effects of age and education affected logical memory alone. For the other domains, the following effects were found: (1) higher age associated with lower scores on delayed recall; (2) higher education levels associated with higher scores on immediate recall, clock drawing and word fluency. The adjusted cut-off score for the Qmci-I screen in this sample was 49.4. Qmci-I scores were weakly correlated with those of MMSE (rho = 0.20). CONCLUSIONS: The Qmci-I is a rapid and multi-domain short cognitive screening instrument useful for evaluating cognitive functions. However, like other screening tools, it is significantly influenced by age and education, requiring normative data and correction of values when used in the clinical practice.

Primary focal hyperhidrosis in a new family not linked to known loci.

BACKGROUND: Primary focal hyperhidrosis (PFH) is a disabling disorder. A first locus has been mapped in families with only palmar involvement, raising the question whether other unknown genes are responsible for more diffuse phenotypes. OBJECTIVE: We investigated a PFH family with a new phenotype, providing evidence that PFH is a clinically and genetically heterogeneous condition. METHODS: Family members were examined by autonomic tests, skin biopsy and genetic analysis, and followed up for 4 years. RESULTS: Age at onset was early, involving the axillae, palms and soles. Affected members had dysautonomic features also at onset. Cardiovascular dysautonomia was present in affected and unaffected members. Skin biopsy revealed impairment of intraepidermal nerve fibers and reduced innervation of sweat glands. There was no linkage to PFH and aquaporin-5 loci. CONCLUSION: This pedigree may serve as a basis for identifying a novel unmapped gene. Skin biopsy and cardiovascular autonomic tests provide important additions to the characterization of PFH.

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.

BACKGROUND/AIMS: A 33-year-old man was referred for the first time to the Division of Neurology because of the presence and progression of neurological symptoms. Dysphagia, weakness, reduced tear production, and nasal speech were present. In order to point the attention of late-onset triple A syndrome we describe this case and review the literature. METHODS: Hormonal and biochemical evaluation, Schirmer test, tilt test and genetic testing for AAAS gene mutations. RESULTS: Late-onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A167V in exon 6) was diagnosed at least 17 years after symptom onset. CONCLUSIONS: The association between typical signs and symptoms of triple A syndrome should suggest the diagnosis even if they manifest in adulthood. The diagnosis should be confirmed by Schirmer test, endocrine testing (both basal and dynamic), genetic analysis, and detailed gastroenterological and neurological evaluations. Awareness of the possible late onset of the disease and of diagnosis in adulthood is still poor among clinicians, the acquaintance with the disease is more common among pediatricians. The importance of an adequate multidisciplinary clinical approach, dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized.

Normal cardiovascular reflex testing in patients with parkin disease.

The objective of this study was to investigate cardiovascular autonomic function in patients with parkin disease. Ten patients with a genetically confirmed diagnosis were compared to 11 healthy controls. Symptoms related to autonomic dysfunction were collected by structured interviews. Cardiovascular autonomic reflex function was evaluated using a standard battery of eight tests. Autonomic tests included the study of sympathetic function through the analysis of blood pressure responses to head-up tilt, standing, isometric hand grip, cold pressor, mental arithmetic, Valsalva maneuver (Valsalva overshoot), and the study of parasympathetic function through the analysis of heart rate responses to deep breathing, hyperventilation, and Valsalva ratio. Seven out of 10 patients reported symptoms involving different aspects of autonomic function, while 5 out of 11 controls reported symptoms related exclusively to orthostatic dizziness and constipation. Symptoms related to bladder dysfunction were the most frequent autonomic abnormality occurring in six patients, followed by orthostatic dizziness and dry mouth (in four patients each). Constipation occurred in three patients, sialorrhea in two, and erectile dysfunction, dry eye, and warm intolerance in one each. Cardiovascular reflex testing revealed no difference between patients and controls in quantitative assessment of both sympathetic and parasympathetic functions, except for diastolic blood pressure after isometric hand grip that did not increase normally in parkin patients compared to controls (P = 0.007). These data show that cardiovascular dysautonomia is not associated to the parkin phenotype, whereas urinary complaints are more frequently reported by parkin patients than by controls. Urinary dysautonomia warrants further investigation in patients with parkin disease.