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Biomedical subjects

Giovanni Abbruzzese

Publications and source records attributed to Giovanni Abbruzzese.

At least 19 recordsLinked to original sources
PubMed2007

Postural responses to continuous unilateral neck muscle vibration in standing patients with cervical dystonia.

Several observations support the notion that integration of neck proprioceptive input is impaired in cervical dystonia (CD). An example is the inconsistent or opposite to normal effect of lateral neck muscle vibration on body rotation during stepping. We hypothesized that lateral neck vibration produces abnormal responses also in a static task. Normal subjects and patients with CD stood quietly with eyes closed, without or with vibration applied to the sternocleidomastoid muscle, and center of foot pressure and body sway were recorded by a dynamometric platform. Patients had a larger than normal sway under control condition. They showed little or no postural responses to vibration. When body tilt occurred, it was rarely in the frontal plane as in normal subjects, but in the sagittal plane. No relationship existed between vibration-induced tilt during stance and body rotation during stepping. Therefore, in CD, proprioceptive neck input is less used for the construction of the postural vertical during quiet stance than it is used for the definition of the subjective straight ahead during a dynamic task.

Adult↗
PubMed2006

Head trauma in primary cranial dystonias: a multicentre case-control study.

BACKGROUND: The relationship between prior trauma and primary adult-onset dystonia is not well understood. Previous uncontrolled observations and exploratory case-control studies have yielded contradictory results. OBJECTIVE: To analyse the association between cranial dystonia and prior head trauma. METHODS: An ad hoc multicentre case-control study was performed using a semistructured interview to collect detailed information on the history of head trauma before disease onset in five Italian tertiary referral centres for movement disorders. The presence of a history of head trauma and of post-traumatic sequelae (loss of consciousness, bone fractures, scalp/facial wounds) before disease onset was recorded from 177 patients with primary adult-onset cranial dystonia and from 217 controls with primary hemifacial spasm matched by age strata and sex. Differences between groups were assessed by Mann-Whitney U test and Fisher's exact test, and the relationship between prior head trauma and case/control status was analysed by multivariate logistic regression models. RESULTS: No association was found between vault/maxillofacial trauma and cranial dystonia. Most reported traumas occurred several years before disease onset. None of the main post-traumatic sequelae altered the chance of developing cranial dystonia compared with patients with primary hemifacial spasm, nor did head trauma modify the age at onset of cranial dystonia. CONCLUSIONS: These results do not support prior head trauma as a possible environmental factor modifying the risk of developing late-onset cranial dystonia. The lack of association may have pathogenetic and medical-forensic implications.

Age of Onset↗
PubMed2006

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease.

Huntington's disease (HD) is a late-onset, autosomal dominant neurodegenerative disease caused by a CAG trinucleotide expansion. The number of repeats on the HD chromosome explains most of the variability in age of onset, but genetic factors other than the HD gene are responsible for part of the residual variance. Based on the role played by the brain derived neurotrophic factor (BDNF) in neurodysfunction and neurodegeneration in HD, we searched for novel polymorphisms in the neuron restrictive silencer element located in the BDNF promoter. Then, the effect of the Val66Met variant in determining age of onset was tested in a large sample of HD carriers by using a multivariate regression approach. The CAG repeat number accounted for 62% of the variance. After correction for the predominant effect of the CAG expansion, no multiple regression model provided evidence of association between the Val66Met genotype and variation in age-at-onset. Additional studies are warranted to further investigate BDNF as genetic modifier of the HD phenotype.

Adolescent↗
PubMed2006

Bilateral impairment of intracortical inhibition in delayed-onset posthemiplegic dystonia: pathophysiological implications.

OBJECTIVE: To study short interval intracortical inhibition (SICI) in a rare patient with segmental dystonia of the left upper limb due to a vascular lesion in the contralateral putamen without corticospinal tract involvement. METHODS: Paired-pulse transcranial magnetic stimulation (TMS) was applied to both hemispheres in a conditioning-test paradigm. Six interstimulus intervals (ISIs) and 4 conditioning stimulation intensities were investigated in two separate sessions. RESULTS: Motor evoked potentials upon single-pulse TMS were within the normal range, whereas paired-pulse TMS revealed major changes in cortical excitability, proving that SICI was bilaterally absent. CONCLUSIONS: The bilateral impairment of SICI cannot be considered the cause of dystonic contractions, but just a predisposing factor. SIGNIFICANCE: The absence of SICI might be regarded as a condition able to promote maladaptive plastic changes triggered by focal lesions in the putamen.

Adult↗
PubMed2006

The posture-related interaction between Ia-afferent and descending input on the spinal reflex excitability in humans.

The separate and combined depressive effects induced by vibration and standing on the soleus H-reflex have been studied by administering Achilles' tendon vibration in prone position and during stance. Without vibration, H-reflex amplitude was larger under prone than standing condition. Vibration reduced the reflex both in prone position and even more during stance. When vibration was superimposed to inclined stance (greater EMG background), the reflex was reduced of the same absolute amount as when it was superimposed to normal stance. When vibration was superimposed on stance with minimal or no background EMG, the reflex disappeared. These results confirm that both upright posture and vibration have a strong depressive effect on the H-reflex. They also show that muscle activity during stance is enough for overcoming the reflex depression. These findings provide information about the origin of the disfacilitatory effects on the monosynaptic reflex pathway, contribute to the understanding of the posture-related mechanisms responsible for the modulation of the spinal reflex excitability, and allow arguing in favour of a minor but adaptable role for the short latency stretch reflex in the control of quiet unperturbed stance.

Adult↗
PubMed2006

A comparative study of primary and secondary hemifacial spasm.

BACKGROUND: Hemifacial spasm (HFS) is a common movement disorder. OBJECTIVE: To evaluate possible differences in the demographic and clinical features between primary and secondary HFS. DESIGN: In-person interview using a standardized questionnaire to collect demographic and clinical data. SETTING: A multicenter study that included patients with HFS attending 3 Italian academic centers. Patients Two hundred fourteen patients with HFS. MAIN OUTCOME MEASURE: A complete neurological examination assessed the current muscle distribution of spasm and the presence of synkinetic movements between upper and lower facial muscles. RESULTS: The study sample comprised 214 patients with HFS, 81 men and 133 women, having a mean +/- SD age of 65.9 +/- 12.3 years; 164 patients were classified as having primary HFS and 50 patients (48 postparalytic and 2 symptomatic cases) were classified as having secondary HFS. Patients with primary and those with secondary HFS had similar mean +/- SD ages at onset (54.9 +/- 13.5 vs 57.0 +/- 12.8 years), male-female ratios (63:101 vs 18:32), right-sided-left-sided HFS (77:86 [1 bilateral] vs 21:28 [1 bilateral]), and frequencies of familial cases (2.9% vs 2.0%), respectively. Most patients (65.0%) with primary HFS had initial symptoms of periocular muscle contractions alone and had subsequent involvement of the lower facial muscles. Most patients (72.0%) with secondary HFS reported initial involvement of the upper and lower facial muscles simultaneously. Signs of synkinesis were present in primary (43.3%) and secondary (58.0%) HFS. CONCLUSIONS: Patients with primary and those with secondary HFS share common demographic and clinical features, including sex distribution, age at onset, affected side of HFS, synkinesis, and rarity of familial cases. Signs of synkinesis were present in significant proportions of patients with primary or secondary HFS. The 2 forms differed in clinical presentation.

Adolescent↗
PubMed2006

Multiple system atrophy is distinguished from idiopathic Parkinson's disease by the arginine growth hormone stimulation test.

OBJECTIVE: Multiple system atrophy (MSA) may be difficult to distinguish from idiopathic Parkinson's disease (PD). Our aim was to evaluate the accuracy of the arginine growth hormone (GH) stimulation test in distinguishing between MSA and PD in large populations of patients. METHODS: We measured the GH response to arginine in 69 MSA (43 MSAp [parkinsonism as the main motor feature] and 26 MSAc [cerebellar features predominated]) patients, 35 PD patients, and 90 healthy control subjects. We used receiver-operating curve analysis to establish the arginine cutoff value that best differentiated between MSA and PD. RESULTS: The GH response to arginine was significantly lower (p < 0.01) in MSA than in either PD patients or control subjects. At a cutoff level of 4 microg/L, arginine distinguished MSAp from PD with a sensitivity and specificity of 91% and MSAc from PD with a sensitivity of 96% and specificity of 91%. The arginine test had a positive predictive value for MSA of 95%. The GH response to arginine was not affected by disease duration or severity, MSA motor subtype, pyramidal signs, response to dopaminergic therapy, or magnetic resonance imaging findings. INTERPRETATION: The GH response to arginine differentiates MSA from PD with a high diagnostic accuracy. The results suggest an impairment of cholinergic central systems modulating GH release in MSA.

Antiparkinson Agents↗
PubMed2006

Posturographic analysis of balance control in patients with essential tremor.

Essential tremor (ET) is a common movement disorder causing an important functional disability. ET is generally regarded as a monosymptomatic disorder, but additional signs may be present. We analyzed postural sway in 19 patients with classic ET and in 19 sex- and age-matched normal controls (NC) to uncover possible abnormalities of balance control. Static posturography was performed with eyes open (EO) and closed during quiet stance and during performance of mental calculation or motor sequence of thumb opposition to the other fingers. No significant differences of center of foot pressure (COP) parameters were observed between patients and controls during quiet standing. Visual deprivation induced a similar worsening of postural sway in both groups. Concomitant performance of a cognitive or motor task did not affect COP area, whereas COP path was significantly modified by the cognitive task in both groups. In all EO conditions, the COP path was significantly lower in NC than in ET, but such offset was related only to the group of ET patients with head tremor. This study demonstrates that balance control is only minimally affected in ET, although patients with head involvement and longer disease duration tend to present a reduced postural stability. The "dual-task effect" is less important in ET than in Parkinson's disease patients.

Adult↗
PubMed2006

Botulinum toxin changes intrafusal feedback in dystonia: a study with the tonic vibration reflex.

To investigate the possible role of botulinum toxin (BT-A) injection in reducing muscle afferent feedback, we evaluated electrophysiologically 10 right-handed patients with writer's cramp before and 3 weeks after treatment. The ratio between pre- and postinjection values of maximal M-wave (M-max), maximal voluntary contraction (MVC), and tonic vibration reflex (TVR) were measured in the injected muscles (wrist flexors or extensors). In all the subjects, BT-A injection reduced the TVR more than the M-max and MVC (mean ratio +/- SD: TVR, 0.24 +/- 0.22; MVC, 0.59 +/- 0.32; M-max, 0.68 +/- 0.24; P = 0.003). Long-term evaluation of 2 patients disclosed that, after 7 months, when some clinical benefits persisted, M-max and MVC had fully recovered, whereas the TVR was still depressed. This special sensitivity of the TVR to suppression by BT-A injection could be mediated by the chemodenervation of intrafusal muscle fibers, leading to a reduction in spindle inflow to the central nervous system during vibration. The action on intrafusal fibers could alter sensorimotor integration, thus contributing to the clinical benefits of BT-A injection.

Adult↗
PubMed2006

Effects of transcutaneous electrical nerve stimulation on motor cortex excitability in writer's cramp: neurophysiological and clinical correlations.

We recently reported that transcutaneous electrical nerve stimulation (TENS) applied over forearm flexor muscles, a paradigm producing in physiological conditions transient changes in corticomotoneuronal excitability of forearm muscles, may improve motor symptoms in writer's cramp (WC). In the present study, we explored the possibility that one or repeated sessions of TENS might have beneficial effects on handwriting in WC by remodulating cortical excitability of forearm agonist and antagonist muscles. Motor evoked potentials (MEPs) after transcranial magnetic stimulation of the left motor cortex were recorded from the right flexor carpi radialis (FCR) and extensor carpi radialis (ECR) muscles, before and after 1 and 15 sessions of TENS applied over flexor muscles in patients and in a control group. One session of TENS induced a significant smaller reduction of MEPs from the FCR and a smaller increase of the MEPs from the ECR in patients than in normal subjects. In WC, repeated sessions of TENS had the effect to decrease MEP amplitude in the FCR and to increase it in the ECR. This modulation was paralleled by a handwriting improvement. In conclusion, repeated TENS sessions may have the effect to re-modulate excitability of the motor cortex in WC and this modulation might partially play a role in temporarily improving the handwriting.

Adult↗
PubMed2006

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

Mutations in the gene leucine-rich repeat kinase 2 (LRRK2) have been recently identified in families with Parkinson's disease (PD). However, the prevalence and nature of LRRK2 mutations, the polymorphism content of the gene, and the associated phenotypes remain poorly understood. We performed a comprehensive study of this gene in a large sample of families with Parkinson's disease compatible with autosomal dominant inheritance (ADPD). The full-length open reading frame and splice sites of the LRRK2 gene (51 exons) were studied by genomic sequencing in 60 probands with ADPD (83% Italian). Pathogenic mutations were identified in six probands (10%): the heterozygous p.G2019S mutation in four (6.6%), and the heterozygous p.R1441C mutation in two (3.4%) probands. A further proband carried the heterozygous p.I1371 V mutation, for which a pathogenic role could not be established with certainty. In total, 13 novel disease-unrelated variants and three intronic changes of uncertain significance were also characterized. The phenotype associated with LRRK2 pathogenic mutations is the one of typical PD, but with a broad range of onset ages (mean 55.2, range 38-68 years) and, in some cases, slow disease progression. On the basis of the comprehensive study in a large sample, we conclude that pathogenic LRRK2 mutations are frequent in ADPD, and they cluster in the C-terminal half of the encoded protein. These data have implications both for understanding the molecular mechanisms of PD, and for directing the genetic screening in clinical practice.

Adult↗
PubMed2005

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of < 45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a new, cost-effective, real-time polymerase chain reaction method. Mutations were found in 33% of the indexes overall, and in 53% of those with family history compatible with autosomal recessive inheritance. Fifteen parkin alterations (10 exon deletions and five point mutations) were identified, including four novel mutations: Arg402Cys, Cys418Arg, IVS11-3C > G, and exon 8-9-10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP.

Adolescent↗
PubMed2005

Relationship between eye symptoms and blepharospasm: a multicenter case-control study.

Although patients with primary blepharospasm (BSP) commonly report experiencing ocular symptoms before the onset of orbicular spasms, the precise frequency and pathogenic role of this subjective ocular discomfort are poorly understood. We conducted a multicenter case-control study to investigate symptoms related to disorders of the anterior segment of the eye, administering a questionnaire to 165 patients with BSP and 180 age- and gender-matched control patients with hemifacial spasm. On a validation sample, our questionnaire yielded high accuracy in detecting eye diseases (predominantly, dry eye syndrome) using detailed ophthalmological examination as the criterion. Logistic regression analysis indicated a significant association between ocular symptoms at disease onset and BSP. Ocular symptoms starting in the year preceding disease onset (short-latency symptoms) showed a stronger association with BSP than ocular symptoms occurring earlier in time (long-latency symptoms). The association was stronger when short-latency symptoms developed from 40 to 59 years of age, whereas this was not observed for long-latency symptoms. Our findings support the view that eye symptoms associated with BSP result from eye diseases and may be involved in the pathogenesis of BSP. The differential risk of developing BSP, based on age at onset of ocular symptoms, suggests that age and eye diseases may interact in giving rise to BSP.

Age of Onset↗
PubMed2005

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective from Parkinson's disease (PD). We evaluated the distribution of the different mtDNA haplogroups in a large cohort of 620 Italian patients with adult-onset (>50, <65 years of age) idiopathic PD vs two groups of ethnic-matched controls. Neither the frequencies of haplogroup J nor that of 10398G were significantly different. However, the frequency of haplogroup K was significantly lower in PD. Stratification by sex and age indicated that the difference in the distribution of haplogroup K was more prominent in >50 year old males. In spite of the common 10398G SNP, haplogroups J and K belong to widely diverging mitochondrial clades, a consideration that may explain the different results obtained for the two haplogroups in our cohorts. Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD.

Age of Onset↗
PubMed2005

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of onset: 43.2+/-5.4 years, 62 sporadic, three familial), selected by age at onset equal or younger than 51 years. Clinical features were compatible with idiopathic Parkinson's disease in all cases. To detect small sequence alterations in Parkin, DJ-1, and PINK1, we performed a conventional mutational analysis (SSCP/dHPLC/sequencing) of all coding exons of these genes. To test for the presence of exon rearrangements in PINK1, we established a new quantitative duplex PCR assay. Gene dosage alterations in Parkin and DJ-1 were excluded using previously reported protocols. Five patients (8%; one woman/four men; mean age at onset: 38.2+/-9.7 (range 25-49) years) carried mutations in one of the genes studied: three cases had novel PINK1 mutations, one of which occurred twice (homozygous c.1602_1603insCAA; heterozygous c.1602_1603insCAA; heterozygous c.836G>A), and two patients had known Parkin mutations (heterozygous c.734A>T and c.924C>T; heterozygous c.924C>T). Family history was negative for all mutation carriers, but one with a history of tremor. Additionally, we detected one novel polymorphism (c.344A>T) and four novel PINK1 changes of unknown pathogenic significance (-21G/A; IVS1+97A/G; IVS3+38_40delTTT; c.852C>T), but no exon rearrangements. No mutations were found in the DJ-1 gene. The number of mutation carriers in both the Parkin and the PINK1 gene in our cohort is low but comparable, suggesting that PINK1 has to be considered in EOP.

Adult↗
PubMed2004

Long-lasting modulation of human motor cortex following prolonged transcutaneous electrical nerve stimulation (TENS) of forearm muscles: evidence of reciprocal inhibition and facilitation.

Several lines of evidence indicate that motor cortex excitability can be modulated by manipulation of afferent inputs, like peripheral electrical stimulation. Most studies in humans mainly dealt with the effects of prolonged low-frequency peripheral nerve stimulation on motor cortical excitability, despite its being known from animal studies that high-frequency stimulation can also result in changes of the cortical excitability. To investigate the possible effects of high-frequency peripheral stimulation on motor cortical excitability we recorded motor-evoked potentials (MEPs) to transcranial magnetic stimulation (TMS) of the left motor cortex from the right flexor carpi radialis (FCR), extensor carpi radialis (ECR), and first dorsal interosseous (FDI) in normal subjects, before and after transcutaneous electrical nerve stimulation (TENS) of 30 min duration applied over the FCR. The amplitude of MEPs from the FRC was significantly reduced from 10 to 35 min after TENS while the amplitude of MEPs from ECR was increased. No effects were observed in the FDI muscle. Indices of peripheral nerve (M-wave) and spinal cord excitability (H waves) did not change throughout the experiment. Electrical stimulation of the lateral antebrachial cutaneous nerve has no significant effect on motor cortex excitability. These findings suggest that TENS of forearm muscles can induce transient reciprocal inhibitory and facilitatory changes in corticomotoneuronal excitability of forearm flexor and extensor muscles lasting several minutes. These changes probably may occur at cortical site and seem to be mainly dependent on stimulation of muscle afferents. These findings might eventually lead to practical applications in rehabilitation, especially in those syndromes in which the excitatory and inhibitory balance between agonist and antagonist is severely impaired, such as spasticity and dystonia.

Adult↗
PubMed2004

Neck proprioception and spatial orientation in cervical dystonia.

Neck muscle vibration is known to influence body orientation and posture during locomotion and stance in normal subjects. To verify the hypothesis that neck proprioceptive input can be misinterpreted in patients with cervical dystonia (CD), lateral continuous vibration was applied to the sternocleidomastoid muscle during both stepping-in-place and quiet stance, with eyes closed. The orienting responses of CD patients were compared with those of normal subjects. Vibration effects on body orientation during stepping and stance were apparently different from normal, since no effects were seen when all patients' data collapsed were analysed. However, while some patients did not respond to vibratory stimuli regardless of the vibrated side, others had a 'good' side, the stimulation of which produced effects on body orientation similar to those observed in normal subjects. Homogeneous groups within the patient population were identified, based on the vibration-induced responses under stepping conditions. The different orienting or postural responses observed in CD patients were correlated with disease-related features such as spontaneous head position, maximum range of voluntary head yaw, presence or absence of a botulinum toxin treatment and disease duration. Our data suggest that, in CD patients, the reference system used in the control of body orientation in space is either refractory to the lateralized proprioceptive neck input or modified such that the input from both sides produces an orientation shift in the same sense. This would depend on the pathogenesis of the disease or on an adaptive process connected to the head abnormal posture. It seems that this refractoriness spreads to both sides of the neck with the advancement of the disease, thereby possibly entraining a progressive shift from a reference system based on the head to a more reliable egocentric reference.

Adult↗