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1.
Compr Psychiatry ; 55(3): 631-8, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24405775

RESUMEN

Executive cognitive functions (ECFs) and other cognitive impairments, such as lower IQ and verbal deficits, have been associated with the pattern of antisocial and delinquent behavior starting in childhood (early-onset), but not with late-onset antisocial behavior. Beyond objective measures of ECF, basic symptoms are prodromal, subjectively experienced cognitive, perceptual, affective, and social disturbances, associated with a range of psychiatric disorders, mainly with psychosis. The goal of the present study was to examine ECF and basic symptoms in a sample of late-onset juvenile delinquents. Two-hundred nine male adolescents (aged 15-20 years) characterized by a pattern of late-onset delinquent behavior with no antecedents of Conduct Disorder, were consecutively recruited from the Social Services of the Department of Juvenile Justice of the city of Messina (Italy), and compared with nonantisocial controls matched for age, educational level, and socio-demographic features on measures for ECF dysfunction and basic symptoms. Significant differences between late-onset offenders (completers=147) and control group (n=150) were found on ECF and basic symptoms measures. Chi-square analysis showed that a significantly greater number of late-onset offending participants scored in the clinical range on several ECF measures. Executive cognitive impairment, even subtle and subclinical, along with subjective symptoms of cognitive dysfunction (basic symptom), may be contributing factor in the development and persistence of antisocial behaviors displayed by late-onset adolescent delinquents. The findings also suggest the need for additional research aimed to assess a broader range of cognitive abilities and specific vulnerability and risk factors for late-onset adolescent offenders.


Asunto(s)
Trastorno de Personalidad Antisocial/psicología , Trastornos del Conocimiento/diagnóstico , Función Ejecutiva , Delincuencia Juvenil/psicología , Adolescente , Trastorno de Personalidad Antisocial/complicaciones , Aprendizaje por Asociación , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/psicología , Estudios Transversales , Humanos , Italia , Masculino , Pruebas Neuropsicológicas , Adulto Joven
2.
Subst Abus ; 35(2): 119-21, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24821345

RESUMEN

BACKGROUND: The aims of this study were to evaluate a combination of aripiprazole and topiramate in the treatment of opioid-dependent patients with schizoaffective disorder undergoing methadone maintenance therapy (MMT) and, further, to taper off patients from methadone treatment. METHODS: Twenty patients who met DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition) criteria for opioid dependence and schizoaffective disorder receiving MMT (80 mg/day) were given aripiprazole (10 mg/day) plus topiramate (up to 200 mg/day) for 8 weeks. A methadone dose reduction of 3 mg/day until suspension at week 4 was established. RESULTS: Aripiprazole plus topiramate was effective in reducing clinical symptoms, and a rapid tapering off of MMT was achieved. CONCLUSIONS: Combining aripiprazole and topiramate may be effective in patients with a dual diagnosis of opioid dependency and schizoaffective disorder.


Asunto(s)
Fructosa/análogos & derivados , Trastornos Relacionados con Opioides/tratamiento farmacológico , Piperazinas/uso terapéutico , Trastornos Psicóticos/tratamiento farmacológico , Quinolonas/uso terapéutico , Adolescente , Adulto , Antipsicóticos/administración & dosificación , Antipsicóticos/efectos adversos , Antipsicóticos/uso terapéutico , Aripiprazol , Diagnóstico Dual (Psiquiatría) , Esquema de Medicación , Quimioterapia Combinada/efectos adversos , Femenino , Fructosa/administración & dosificación , Fructosa/efectos adversos , Fructosa/uso terapéutico , Humanos , Masculino , Metadona/administración & dosificación , Metadona/uso terapéutico , Narcóticos/administración & dosificación , Narcóticos/uso terapéutico , Tratamiento de Sustitución de Opiáceos , Trastornos Relacionados con Opioides/complicaciones , Piperazinas/administración & dosificación , Piperazinas/efectos adversos , Escalas de Valoración Psiquiátrica , Trastornos Psicóticos/complicaciones , Quinolonas/administración & dosificación , Quinolonas/efectos adversos , Topiramato , Resultado del Tratamiento , Adulto Joven
3.
Arch Sex Behav ; 42(1): 117-27, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23007336

RESUMEN

Alexithymia is a construct which denotes thought characterized by pragmatic content, an inability to recognize and verbally express emotion, a difficulty in distinguishing between feelings and bodily sensations, and a limitation in fantasy life. Research has revealed a role for alexithymia in different kinds of sexual dysfunctions; it was also associated with reduced frequency of penile-vaginal intercourse but not with sexual behaviors-like masturbation-which do not include an emotional interaction in normal individuals. The aim of this research was to further investigate the association between alexithymia scores and sexual behavior in a sample of normal individuals, taking into account the role of gender differences and the possible effect of negative emotions (depression, anxiety, and anger). Participants were 300 university students (142 men and 158 women); sexual behavior was measured by the Sex and the Average Woman (or Man) Scale while alexithymia was measured with the Toronto Alexithymia Scale. The findings of the study showed that higher alexithymia scores were associated with lower levels of sexual satisfaction and higher levels of sexual detachment for females, and with sexual shyness and sexual nervousness for both genders. Results also suggested that the correlations between alexithymia scores and sexual behavior are partially influenced by the effect of negative emotions. Overall, it seems that the same detachment which denotes the alexithymic interpersonal style also characterizes sexual behavior.


Asunto(s)
Heterosexualidad/psicología , Control Interno-Externo , Relaciones Interpersonales , Parejas Sexuales/psicología , Estudiantes/psicología , Adulto , Afecto , Ansiedad/psicología , Emociones , Femenino , Humanos , Italia , Masculino , Satisfacción Personal , Calidad de Vida/psicología , Encuestas y Cuestionarios , Adulto Joven
4.
Expert Opin Pharmacother ; 24(4): 419-423, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36690348

RESUMEN

INTRODUCTION: Gambling disorder (GD) consists of a persistent, recurrent pattern of gambling that is associated with substantial distress or impairment. The etiology is multifactorial. GD frequently co-occurs with other psychiatric disorders and is often untreated. Different psychosocial interventions, particularly cognitive-behavioral therapy, are useful in the treatment of GD. Pharmacological therapy may also be helpful . No formal guidelines exist, and the management of the disease is often guided by few clinical elements. AREAS COVERED: A literature search was performed using PubMed, Scopus, and Web of Science databases about treatment options for GD, considering both psychosocial treatments and available pharmacological ones. EXPERT OPINION: The authors address whether and when it is appropriate to initiate pharmacological treatment for GD. They focus on providing clinicians with guidance on how to approach patients with GD in those situations where pharmacological therapy may be necessary. The reasons for the clinician to start thinking about a medication are examined. As specific traits in the psychopathology of GD may be managed with a strategic choice of the pharmacologic agent, the different available options are analyzed on the basis of their potential usefulness in GD. Issues that remain open about the pharmacological management of GD are summarized.


Asunto(s)
Terapia Cognitivo-Conductual , Juego de Azar , Humanos , Juego de Azar/tratamiento farmacológico
5.
Adv Exp Med Biol ; 724: 239-57, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22411247

RESUMEN

Myotonic Dystrophy Type 1 (DM1) is the most common worldwide autosomal dominant muscular dystrophy due to polynucleotide [CTG]( n ) triplet expansion located on the 3'UTR of chromosome 19q13.3. A toxic gain-of-function of abnormally stored RNA in the nuclei of affected cells is assumed to be responsible for several clinical features of the disease. It plays a basic role in deregulating RNA binding protein levels and in several mRNA splicing processes of several genes, thus leading to the multisystemic features typical of DM1. In DM1, the musculoskeletal apparatus, heart, brain, eye, endocrine, respiratory and gastroenteric systems are involved with variable levels of severity. DM1 onset can be congenital, juvenile, adult or late. DM1 can be diagnosed on the grounds of clinical presentation (distal muscular atrophy and weakness, grip and percussion myotonia, ptosis, hatchet face, slurred speech, rhinolalia), EMG myotonic pattern, EKG (such as AV-blocks) or routine blood test abnormalities (such as increased CK values or hypogamma-globulinemia) and history of cataract. Its confirmation can come by DNA analysis. At present, only symptomatic therapy is possible and is addressed at correcting hormonal and glycemic balance, removing cataract, preventing respiratory failure and, above all, major cardiac disturbances. Efficacious therapies targeted at the pathogenic mechanism of DM1 are not yet available, while studies that seek to block toxic RNA intranuclear storage with specific molecules are still ongoing.


Asunto(s)
Distrofia Miotónica/genética , Expansión de Repetición de Trinucleótido/genética , Electrocardiografía , Electromiografía , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Músculos/patología , Músculos/fisiopatología , Distrofia Miotónica/historia , Distrofia Miotónica/patología , Fotograbar , Proteínas Serina-Treonina Quinasas/genética , Proteínas de Unión al ARN/genética
6.
J Psychoactive Drugs ; 44(5): 359-64, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23457886

RESUMEN

This study investigated the association between drugs and sexual behavior in a sample of polydrug substance abusers recruited from several Italian therapeutic communities; participants were 90 polydrug substance abusers (opiates, cocaine, amphetamine, inhalants, marijuana/sedatives or hallucinogens abusers) who were compared with 90 nonsubstance-abusing individuals. Sexual behavior was measured by the Italian version of the Sex and the Average Woman (or Man; SAWM), a questionnaire that assesses different kind of sexual attitudes. Results showed that drug-abusing individuals are particularly inclined to search for sexual intercourse and are open to different kinds of sexual experiences; however, they have difficulties in establishing committed and deep relationships with their partners, showing signs of inhibition, affective detachment or anger. Their sexual lives are also surrounded by negative emotions, disturbing thoughts and maladjusted behaviors. The importance of integrating sexual problems into therapeutic strategies is discussed.


Asunto(s)
Conducta Sexual/efectos de los fármacos , Conducta Sexual/psicología , Trastornos Relacionados con Sustancias/psicología , Trastornos de Adaptación/psicología , Adulto , Agresión , Actitud , Demografía , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Literatura Erótica , Femenino , Humanos , Masculino , Factores Socioeconómicos , Encuestas y Cuestionarios
7.
J Clin Psychopharmacol ; 31(2): 174-9, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21346614

RESUMEN

Based on the evidence that aripiprazole added to serotonin reuptake inhibitors (SRIs) or clomipramine in treatment-resistant obsessive-compulsive disorder (OCD) has reported promising results, the present 16-week, double-blind, randomized, placebo-controlled trial had the aim to explore the efficacy of aripiprazole add-on pharmacotherapy on clinical symptoms and cognitive functioning in a sample of treatment-resistant OCD patients receiving SRIs. After clinical and neurocognitive assessments, patients were randomly allocated to receive, in a double-blind design, 15 mg/d of aripiprazole or a placebo. A final sample of 30 patients completed the study. The results obtained indicate that aripiprazole added to stable SRI treatment substantially improved obsessive-compulsive symptoms as measured by changes on the Yale-Brown Obsessive Compulsive Scale total score and subscores (obsessions, P = 0.007; compulsions, P = 0.001; total score, P < 0.0001). Regarding cognitive functions, improvement was observed in some explored areas, such as attentional resistance to interference (Stroop score, P = 0.001) and executive functioning (perseverative errors, P = 0.015). The findings provide evidence that aripiprazole augmentation of SRIs/clomipramine treatment is well tolerated and may be proposed as an effective therapeutic strategy to improve outcome in treatment-resistant OCD.


Asunto(s)
Clomipramina/administración & dosificación , Trastorno Obsesivo Compulsivo/tratamiento farmacológico , Trastorno Obsesivo Compulsivo/psicología , Piperazinas/administración & dosificación , Quinolonas/administración & dosificación , Inhibidores Selectivos de la Recaptación de Serotonina/administración & dosificación , Adulto , Anciano , Aripiprazol , Método Doble Ciego , Quimioterapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Adulto Joven
8.
Neurol Sci ; 31(6): 757-63, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20842397

RESUMEN

The aim was to study brain involvement in myotonic dystrophy type 1 by single photon emission tomography (SPECT) and positron emission tomography (PET). 58 DM1 patients were subjected to SPECT; 17 to both SPECT and PET. SPECT patients were grouped as 'normally perfused' and 'abnormally perfused'; PET patients as 'normal performers' and 'abnormal performers'. To quantify hypoperfusion and/or hypometabolism, we used a semi-quantitative scale. To localize focal hypoperfusion/hypometabolism, nine cerebral areas of involvement were identified. The Chi-square, Wilcoxon, McNemar tests were used for statistics. SPECT showed abnormalities in 52/58 patients. PET showed an abnormal glucidic uptake in 15/17. Hypoperfusion was mild/moderate in 50/58 patients, mostly involving the left supratentorial areas. Abnormal glucidic uptake was mainly observed in the left frontal lobe. Abnormalities in blood perfusion and/or glucose metabolism are frequent in DM1. These abnormalities involve the left more often than the right hemisphere, the frontal lobe more than other lobes. Such abnormalities are more often cortical than subcortical.


Asunto(s)
Distrofia Miotónica/diagnóstico por imagen , Distrofia Miotónica/diagnóstico , Tomografía de Emisión de Positrones/métodos , Tomografía Computarizada de Emisión de Fotón Único/métodos , Adulto , Encéfalo/irrigación sanguínea , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Índice de Severidad de la Enfermedad
9.
Front Psychiatry ; 11: 572245, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33101086

RESUMEN

BACKGROUND: Following the development of the COVID-19 pandemic, a rigid public health strategy of reduced social contact and shelter-in-place has been adopted by the Italian Government to reduce the spread of the virus. In this paper, we aim at evaluating the impact that the COVID-19 pandemic, and the relative containment measures, have had on a real-life sample of patients suffering from substance use disorders (SUDs) and/or behavioral addictions. METHODS: An anonymous questionnaire was filled out by 153 addicted patients, both outpatients and residential inpatients, recruited across Italy and highly representative of the current Italian population suffering from addictions. Psychopathological burden (anxiety and depressive symptomatology, somatization, irritability, and post-traumatic symptoms), quality of life, and craving changes in daily habits were assessed. RESULTS: In our sample, we found moderate rates of depression (22.9%), anxiety (30.1%), irritability (31.6%), and post-traumatic stress (5.4%) symptoms. Psychopathological burden was globally higher among residential patients. Reported levels of craving were generally low. DISCUSSION: This study is the first attempt to collect Italian data regarding the effects of the rigid quarantine period, during the COVID-19 pandemic, on patients suffering from a SUD and/or behavioral addictions. The presence of a moderate psychopathological burden correlated to poor quality of life and low craving scores represented the main outcomes. Long-term studies, with follow-up after the end of the restrictive measures, should be considered to implement our findings.

10.
Neurol Sci ; 30(3): 185-92, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19326042

RESUMEN

Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (proximal muscular myopaty/DM2) are caused by similar dynamic mutations at two distinct genetic loci. The two diseases also lead to similar phenotypes but different clinical severity. Dysregulation of alternative splicing has been suggested as the common pathogenic mechanism. Here, we investigate the molecular differences between DM1 and DM2 using reverse transcriptase-polymerase chain reaction of troponin T (TnT) and the insulin receptor (IR), as well as immunoblotting of TnT in muscle biopsies from DM1 and DM2 patients. We found that: (a) slow TnT was encoded by two different transcripts in significantly different ratios in DM1 and DM2 muscles; (b) DM2 muscles exhibited a higher degree of alternative splicing dysregulation for fast TnT transcripts when compared to DM1 muscles; (c) the distribution of TnT proteins was significantly skewed towards higher molecular weight species in both diseases; (d) the RNA for the insulin-independent IR-A isoform was significantly increased and appeared related to the fibre-type composition in the majority of the cases examined. On the whole, these data should give a better insight on pathogenesis of DM1 and DM2.


Asunto(s)
Fibras Musculares Esqueléticas/metabolismo , Músculo Esquelético/metabolismo , Trastornos Miotónicos/genética , Receptor de Insulina/genética , Troponina T/genética , Adulto , Empalme Alternativo/genética , Estudios de Casos y Controles , Humanos , Persona de Mediana Edad , Fibras Musculares Esqueléticas/clasificación , Trastornos Miotónicos/clasificación , Trastornos Miotónicos/metabolismo , Distrofia Miotónica/genética , Distrofia Miotónica/metabolismo , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , ARN/análisis , Receptor de Insulina/metabolismo , Valores de Referencia , Troponina T/metabolismo , Adulto Joven
11.
Amyotroph Lateral Scler ; 9(5): 287-93, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18608096

RESUMEN

The distinction between primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) still remains debated. Recently, PLS patients displaying lower motor neuron (LMN) signs have been defined as 'upper motor neuron (UMN)-dominant ALS', using 'clinically pure PLS' diagnosis to those with no LMN signs. To further characterize the LMN involvement in UMN-dominant ALS we investigated the presence and the extent of neurogenic abnormalities in the skeletal muscle of patients affected with a pyramidal syndrome consistent with UMN-dominant ALS. A total of nine patients affected with UMN-dominant ALS were analysed. In all cases, muscle biopsies showed the presence of scattered or clustered atrophic angulated fibres in small groups, and a mild to moderate fibre type-grouping. Target and targetoid fibres were detected in two cases only. Three patients had a second muscle biopsy which demonstrated a roughly unchanged pattern of chronic denervation with still moderate reinnervation phenomena. This study suggests that in UMN-dominant ALS muscle denervation may be characterized by an early chronic impairment of a restricted number of LMNs. The extent rather than the presence of LMN signs may allow to categorize patients with motor neuron disease involving mainly UMN into distinct entities.


Asunto(s)
Esclerosis Amiotrófica Lateral/patología , Enfermedad de la Neurona Motora/patología , Músculo Esquelético/patología , Adulto , Anciano , Esclerosis Amiotrófica Lateral/clasificación , Esclerosis Amiotrófica Lateral/fisiopatología , Biopsia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de la Neurona Motora/clasificación , Enfermedad de la Neurona Motora/fisiopatología , Neuronas Motoras/fisiología , Músculo Esquelético/citología
12.
J Addict ; 2014: 987841, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25405056

RESUMEN

The aim of this study was to assess the risk of exercise addiction (EA) in fitness clubs and to identify possible factors in the development of the disorder. The Exercise Addiction Inventory (EAI), the Narcissistic Personality Inventory (NPI), and the Coopersmith Self-Esteem Inventory (SEI) were administered to a sample of 150 consecutive gym attenders recruited in fitness centers. Based on EAI total score, high EA risk group (HEA n = 51) and a low EA risk group (LEA n = 69) were identified. HEA reported significantly higher total score (mean = 20.2 versus 14.6) on the NPI scale and lower total score (mean = 32.2 versus 36.4) on the SEI scale than LEA. A stepwise regression analysis indicated that only narcissism and self-esteem total scores (F = 5.66; df = 2; P = 0.006) were good predictors of days per week exercise. The present study confirms the direct and combined role of both labile self-esteem and high narcissism in the development of exercise addiction as predictive factors towards the risk of addiction. Multidisciplinary trained health care providers (physiatrists, psychologists, and psychiatrists) should carefully identify potential overexercise conditions in order to prevent the potential risk of exercise addiction.

13.
Riv Psichiatr ; 48(4): 307-14, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24180030

RESUMEN

BACKGROUND: The aim of this study was to investigate the relationship between personality and sexual motivation according to Cloninger's psychobiological model of the personality. METHODS: Three hundred and ten volunteers recruited among the students of the University of Messina, Italy, participated in the study. All subjects underwent a psychometric examination with the following instruments: Temperament and Character Inventory (TCI) and Sex and the Average Woman (or Man; SAWM). RESULTS: The best negative predictor of Sexual Excitement and Satisfaction was the temperamental dimension Harm Avoidance; as it regards character dimensions, Cooperativeness was the best negative predictor of Sexual Excitement, while Self-Directedness was the best positive predictor of Sexual Satisfaction. CONCLUSIONS: Overall, inhibitory aspects of the personality have deeper effects on sexual motivation than excitatory ones. The results of this research suggest the importance of studying the relationship between personality and sexual behavior. An integrative psychobiological approach to the study of sexual excitement and satisfaction may give a fundamental contribution to the assessment and psychological treatment of predisposing personality factors (like avoidant tendencies) involved in the development and persistence of sexual dysfunction.


Asunto(s)
Motivación , Personalidad , Conducta Sexual/psicología , Adulto , Femenino , Humanos , Italia , Masculino , Valor Predictivo de las Pruebas , Psicometría , Muestreo , Estudiantes , Encuestas y Cuestionarios , Universidades
14.
Int Clin Psychopharmacol ; 26(6): 303-10, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21934625

RESUMEN

Antidepressant drugs have often been used as an augmentation strategy for those patients who have demonstrated a suboptimal response to clozapine. The present 16-week double-blind, randomized, placebo-controlled trial study aimed to explore the efficacy and tolerability of duloxetine add-on pharmacotherapy on clinical symptomatology and executive cognitive functioning in a sample of patients with treatment-resistant schizophrenia receiving clozapine. After clinical and neurocognitive assessments, the patients were randomly allocated to receive, in a double-blind design, at a dose of 60 mg per day of duloxetine or a placebo. A final sample of 33 patients completed the study. The results obtained indicate that duloxetine added to stable clozapine treatment showed a beneficial effect on the negative and general psychopathological symptomatology in a sample of treatment-resistant schizophrenic patients. With regard to executive cognitive functions, duloxetine augmentation of clozapine had no significant effects. The findings provide evidence that duloxetine augmentation of clozapine treatment is safe and well tolerated and may be of benefit for patients who are partially responsive to clozapine monotherapy.


Asunto(s)
Inhibidores de Captación Adrenérgica/uso terapéutico , Antidepresivos/uso terapéutico , Antipsicóticos/uso terapéutico , Clozapina/uso terapéutico , Esquizofrenia/tratamiento farmacológico , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico , Tiofenos/uso terapéutico , Inhibidores de Captación Adrenérgica/efectos adversos , Adulto , Antidepresivos/efectos adversos , Antipsicóticos/efectos adversos , Clozapina/efectos adversos , Progresión de la Enfermedad , Método Doble Ciego , Quimioterapia Combinada , Clorhidrato de Duloxetina , Función Ejecutiva/efectos de los fármacos , Femenino , Guías como Asunto , Humanos , Masculino , Persona de Mediana Edad , Placebos , Escalas de Valoración Psiquiátrica , Inhibidores Selectivos de la Recaptación de Serotonina/efectos adversos , Tiofenos/efectos adversos , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
15.
J Neurol ; 257(8): 1246-55, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20221771

RESUMEN

The objective of this study was to determine the degree of brain involvement in a cohort of myotonic dystrophy type 1 and type 2 (DM1, DM2) patients by brain studies and functional tests and to compare the results of the two groups. DM1, DM2 are multisystemic disorders due to polynucleotide expansions. Previous studies on brain involvement by neuroimaging and functional methods have led to contradictory results. Fifty molecularly defined DM1 patients and 14 DM2 patients, were recruited for the study. Age at recruitment, age at disease onset, disease duration and educational level were recorded. Neuromuscular assessment was done by MIRS. An extensive neuropsychological battery was performed in 48/50 DM1 and in a control group of 44 healthy matched subjects. Forty six of 50 DM1 and 12/14 DM2 underwent brain MRI; 21/50 DM1 and 9/14 DM2 underwent brain perfusion SPECT, with semiquantitative analysis of the results. MRI images were classified by ARWMC (age-related white matter changes) score, in order to quantify recurrence, localization and patterns of distribution of white matter hyperintense lesions (WMHLs) in our two cohorts. MRI results were matched to SPECT and to neuropsychological results. Thirty-seven of 46 DM1 and 10/12 DM2 had abnormal MRI imaging, showing scattered supratentorial, bilateral, symmetrical focal or diffuse WMHLs. A typical temporo-insular diffuse subcortical pattern was seen in DM1 subjects only, with no correlation with cognitive involvement. Major cognitive involvement was seen in the case of diffuse frontal lesions. A relationship with CTG expansion size was documented for DM1 subjects. SPECT showed minimal hypoperfusion in the posterior cortex planes in DM1 and, to a lesser extent, in DM2. Very mild degrees of involvement in the DM2 cohort were seen. Neuroimaging and functional investigations confirmed a more severe involvement of the brain in DM1 compared to DM2. A temporo-insular diffuse lesional pattern, specific for DM1, was found on MRI. This confirms greater expansion size as a risk factor for more extensive brain involvement in DM1.


Asunto(s)
Encefalopatías/patología , Encefalopatías/psicología , Distrofia Miotónica/patología , Distrofia Miotónica/psicología , Adolescente , Adulto , Anciano , Encefalopatías/diagnóstico por imagen , Encefalopatías/etiología , Niño , Estudios de Cohortes , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Distrofia Miotónica/clasificación , Distrofia Miotónica/diagnóstico por imagen , Pruebas Neuropsicológicas/normas , Factores de Riesgo , Tomografía Computarizada de Emisión de Fotón Único , Adulto Joven
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