Putamen Volume Differences Among Older Adults: Depression Status, Melancholia, and Age.

BACKGROUND: Individuals with major depressive disorder (MDD) may exhibit smaller striatal volumes reflecting deficits in the reward circuit. Deficits may change with age and be more pronounced among the melancholic subtype. Limited research has investigated striatal volume differences in older adults and by depression subtypes. METHOD: We used baseline data from the Neurocognitive Outcomes of Depression in the Elderly study. We examined volumetric differences in the putamen and caudate nucleus among older adults (60 years and older), comparing healthy control participants (n = 134) to depressed participants (n = 226), and comparing nonmelancholic depressed participants (n = 93) to melancholic depressed participants (n = 133). Group-by-age interactions were examined. RESULTS: There were no significant group differences for the caudate nucleus. For the left putamen, investigation of the significant group-by-age interaction revealed that volume size was greater for the healthy controls compared to the depressed participants but only at younger ages (60-65 years); group differences diminished with increasing age. Examining volume by depression subtype revealed that the melancholic depressed participants had a smaller left putamen compared to the nonmelancholic depressed participants. Anhedonia symptoms were related to both smaller left and right putamen. CONCLUSION: Structural abnormalities in reward regions may underlie the anhedonic phenotype. Volume loss associated with MDD may attenuate in older age.

A case of multiple system atrophy-parkinsonian type with stuttering- and palilalia-like dysfluencies and putaminal atrophy.

Both developmental and acquired stuttering are related to the function of the basal ganglia-thalamocortical loop, which includes the putamen. Here, we present a case of stuttering- and palilalia-like dysfluencies that manifested as an early symptom of multiple system atrophy-parkinsonian type (MSA-P) and bilateral atrophy of the putamen. The patient was a 72-year-old man with no history of developmental stuttering who presented with a stutter for consultation with our otorhinolaryngology department. The patient was diagnosed with MSA-P based on parkinsonism, autonomic dysfunction, and bilateral putaminal atrophy revealed by T2-weighted magnetic resonance imaging. Treatment with levodopa improved both the motor functional deficits related to MSA-P and stuttering-like dysfluencies while reading; however, the palilalia-like dysfluencies were much less responsive to levodopa therapy. The patient died of aspiration pneumonia two years after his first consultation at our hospital. In conclusion, adult-onset stuttering- and palilalia-like dysfluencies warrant careful examination of the basal ganglia-thalamocortical loop, and especially the putamen, using neuroimaging techniques. Acquired stuttering may be related to deficits in dopaminergic function.

Anomalous Putamen Volume in Children With Complex Motor Stereotypies.

BACKGROUND: Complex motor stereotypies in children are repetitive rhythmic movements that have a predictable pattern and location, seem purposeful, but serve no obvious function, tend to be prolonged, and stop with distraction, e.g., arm or hand flapping, waving. They occur in both "primary" (otherwise typically developing) and secondary conditions. These movements are best defined as habitual behaviors and therefore pathophysiologically hypothesized to reside in premotor to posterior putamen circuits. This study sought to clarify the underlying neurobiologic abnormality in children with primary complex motor stereotypies using structural neuroimaging, emphasizing brain regions hypothesized to underlie these atypical behaviors. METHODS: High-resolution anatomic magnetic resonance images, acquired at 3.0 T, were analyzed in children aged eight to twelve years (20 with primary complex motor stereotypies and 20 typically developing). Frontal lobe subregions and striatal structures were delineated for analysis. RESULTS: Significant reductions (P = 0.045) in the stereotypies group were identified in total putamen volume but not in caudate, nucleus accumbens, or frontal subregions. There were no group differences in total cerebral volume. CONCLUSIONS: Findings of a smaller putamen provide preliminary evidence suggesting the potential involvement of the habitual pathway as the underlying anatomic site in primary complex motor stereotypies.

The putaminal abnormalities on 3.0T magnetic resonance imaging: can they separate parkinsonism-predominant multiple system atrophy from Parkinson's disease?

BACKGROUND: The putaminal abnormalities detected on 1.5 T magnetic resonance imaging (MRI), such as putaminal atrophy, slit-like hyperintense rim, and hypointensity in the putamen on T2-weighted (T2W) imaging are important signs on differentiating multiple system atrophy with parkinsonism (MSA-P) from Parkinson's disease (PD). However, the putaminal abnormalities may have different manifestations on 3.0 T from those on 1.5 T. PURPOSE: To investigate the diagnostic value of putaminal abnormalities on 3.0 T MRI for differentiating MSA-P from PD. MATERIAL AND METHODS: The study included a MSA-P group (9 men, 9 women), a PD group (12 men, 14 women), and a control group (11 men, 13 women). All subjects were examined with 3.0 T MRI using the conventional protocol. Putaminal atrophy, T2-hypointensity in the dorsolateral putamenat, and a slit-like hyperintense rim on the lateral putamen were evaluated in each subject. RESULTS: There were no significant differences in the slit-like hyperintense rim (P = 0.782) or T2-hypointensity in the dorsolateral putamen (P = 0.338) among the three groups. Bilateral putaminal atrophy was found in 44.4% (8 of 18) of the MSA-P patients, in only 7.7% (2 of 26) of the PD patients, and in none of the controls. The proportion of subjects with putaminal atrophy was significantly higher in the MAS-P group (P = 0.008) and control group (P < 0.001). The specificity and sensitivity of putaminal atrophy for distinguishing MSA-P from PD was 92.3% and 44.4%, respectively. CONCLUSION: The signal changes in the putamen on T2W imaging on 3.0 T MRI, including slit-like hyperintense rim and putaminal hypointensity, are not specific signs for MSA-P. Putaminal atrophy is highly specific for differentiating MSA-P from PD and healthy controls, but its insufficient sensitivity limits its diagnostic value.

Usefulness of 3D-PRESTO imaging in evaluating putaminal abnormality in parkinsonian variant of multiple system atrophy.

INTRODUCTION: Principles of echo shifting with a train of observations (PRESTO) sequence has long echo time which emphasizes the effect of T2* relaxation time and contribute to its high sensitivity to the susceptibility change. The aim of our study was to evaluate the ability of 3D-PRESTO sequence in detecting putaminal hypointensity in patients with parkinsonian variant of multiple system atrophy (MSA-P) and in discriminating between MSA-P and Parkinson's disease (PD). METHODS: The signal intensity of the putamen and localization of abnormality were evaluated on 3D-PRESTO, T2*-weighted (T2*W), and T2-weighted (T2W) sequences in ten patients with MSA-P, 14 with PD, and ten controls. The putaminal signal intensity was assessed in all sequences and graded relative to the palladium. Atrophy of the putamen and posterolateral hyperintensity rim on T2W sequence were also evaluated in MSA-P patients. RESULTS: Putaminal hypointensity was more often seen in MSA-P than PD and controls on 3D-PRESTO sequence (p = 0.002) as well as on T2*W sequence (p = 0.003). 3D-PRESTO sequence could reveal lower intensity better than T2*W sequence in four of ten MSA-P cases. Hemi- or bilateral putaminal hypointensity, atrophy, and posterolateral hyperintensity rim were recognized in 90%, 70%, and 70% of ten MSA-P cases, respectively. Three cases revealed hypointensity on 3D-PRESTO sequence without posterolateral hyperintensity rim. Putaminal signal changes occurred in the posterolateral part with a striking lateral to medial gradient in all nine cases with putaminal hypointensity (nine out of nine, 100%). CONCLUSIONS: 3D-PRESTO sequence appears to be useful for depicting putaminal hypointensity in MSA-P patients and in differentiating MSA-P from PD.

Síndrome de Leigh causado por la mutación G14459A del ADN mitocondrial en una familia mexicana / Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a mexican family

Introducción. El síndrome de Leigh es una enfermedad neurodegenerativa y progresiva, de aparición en la infancia, que está causada por defectos tanto en el genoma nuclear como en el mitocondrial. La mutación G14459A del ADN mitocondrial se ha asociado con anterioridad a la neuropatía óptica hereditaria de Leber y recientemente al síndrome de Leigh. Caso clínico. Niña mexicana de 10 meses de edad diagnosticada, después de un seguimiento clínico, neurológico y radiológico, de síndrome de Leigh. Se le realizó el análisis de mutaciones puntuales en el ADN mitocondrial asociadas a este síndrome, y se encontró la mutación G14459A en un porcentaje próximo a la homoplasmia y en heteroplasmia en la madre. El resto de familiares relacionados por vía materna carecen de la mutación. Conclusión. La mutación G14459A, aunque poco frecuente en la patología, debe de estudiarse en pacientes con síndrome de Leigh que no presentan las mutaciones puntuales más comunes (AU)

Introduction. Leigh syndrome is a neurodegenerative and progressive disease that appears usually in childhood due to defects in nuclear or mitochondrial genome. The mutation G14459A in mitochondrial DNA has been associated previously to Leber hereditary optic neuropathy and recently to Leigh syndrome. Case report. A 10 months-old Mexican girl diagnosed of Leigh syndrome. Molecular-genetic studies detected the mutation G14459A in a percentage close to homoplasmy and in low heteroplasmy in her mother. The rest of the maternally related family members analyzed were negative. Conclusion. The G14459A mutation, although not very frequently associated to Leigh syndrome, should be analyzed in patients that do not present the most common point mutations (AU)

Basal ganglia shape abnormalities in the unaffected siblings of schizophrenia patients.

BACKGROUND: Abnormalities of basal ganglia structure in schizophrenia have been attributed to the effects of antipsychotic drugs. Our aim was to test the hypothesis that abnormalities of basal ganglia structure are intrinsic features of schizophrenia by assessing basal ganglia volume and shape in the unaffected siblings of schizophrenia subjects. METHOD: The study involved 25 pairs of schizophrenia subjects and their unaffected siblings and 40 pairs of healthy control subjects and their siblings. Large-deformation, high-dimensional brain mapping was used to obtain surface representations of the caudate, putamen, and globus pallidus. Surfaces were derived from transformations of anatomic templates, and shapes were analyzed using reduced-dimensional measures of surface variability (i.e., principal components and canonical analysis). Canonical functions were derived using schizophrenia and control groups and were then used to compare shapes in the sibling groups. To visualize shape differences, maps of the estimated surface displacement between groups were created. RESULTS: In the caudate, putamen, and globus pallidus, the degree of shape abnormality observed in the siblings of the schizophrenia subjects was intermediate between the schizophrenia and control subjects. In the schizophrenia subjects, significant correlations were observed between measures of caudate, putamen, and globus pallidus structure and the selected measures of lifetime psychopathology. CONCLUSIONS: Attenuated abnormalities of basal ganglia structure are present in the unaffected siblings of schizophrenia subjects. This finding implies that basal ganglia structural abnormalities observed in subjects with schizophrenia are at least in part an intrinsic feature of the illness.

Shape deformity of the corpus striatum in obsessive-compulsive disorder.

Volumetric changes of striatal structures based on magnetic resonance imaging (MRI) have been inconsistent in patients with obsessive-compulsive disorder (OCD) due to methodological limitations. The purpose of this study was to investigate shape deformities of the corpus striatum in patients with OCD. We performed 3-D shape deformation analysis of the caudate nucleus, the putamen, and the globus pallidus in 36 patients with OCD and 36 healthy normal subjects. Shape analysis showed deformity of the striatal structures, especially the caudate nucleus. Outward deformities in the superior, anterior portion of the bilateral caudate were observed in patients with OCD. In addition, an outward deformity in the inferior, lateral portion of the left putamen was also detected. These results suggest that patients with OCD have shape deformities of the corpus striatum, especially the caudate nucleus, compared with healthy normal subjects, and that shape analysis may provide an important complement to volumetric MRI studies in investigating the pathophysiology of OCD.

Characterizing anatomic differences in boys with attention-deficit/hyperactivity disorder with the use of deformation-based morphometry.

BACKGROUND AND PURPOSE: Most previous neuroimaging studies of attention-deficit/hyperactivity disorder (ADHD) rely on the manual delineation of the region of interest, which is subjective and lacks reproducibility. The purpose of this study was to use an automated method to assess whether there are abnormalities in the brains of patients with ADHD. In view of findings from previous imaging and neuropsychologic studies, we predicted that we would detect abnormalities in many brain regions of patients with ADHD. MATERIALS AND METHODS: Twelve boys with ADHD and 12 control subjects underwent MR imaging assessments. Statistically significant changes in regional volume were analyzed by using deformation based morphometry (DBM). This technique derived a voxel-wise estimation of regional tissue volume change from the deformation field required to warp subject to the template image. Morphologic differences between groups were estimated at each voxel, applying a threshold (P < .001) to the resulting voxel statistic maps to generate clusters of spatially contiguous suprathreshold voxels, RESULTS: The statistical results reveal some pronounced volume alterations in the brains of ADHD. Volume reductions are mainly localized in right prefrontal (Talairach 48, 20, 31), right medial temporal (Talairach 59, -52, 13), left parietal lobe (Talairach -32, -61, 41), and right basal ganglia (especially right putamen) (Talairach 21, 1, 11); the regions of volume enlargement in the brains of ADHD are observed in the right occipital lobe (Talairach 20, -86, 29) and in the left posterior lateral ventricle (Talairach -23, -40, 15). CONCLUSION: Our findings confirm that there are widespread abnormalities in volume of boys with ADHD.

Validity of large-deformation high dimensional brain mapping of the basal ganglia in adults with Tourette syndrome.

The basal ganglia and thalamus may play a critical role for behavioral inhibition mediated by prefrontal, parietal, temporal, and cingulate cortices. The cortico-basal ganglia-thalamo-cortical loop with projections from frontal cortex to striatum, then to globus pallidus or to substantia nigra pars reticulata, to thalamus and back to cortex, provides the anatomical substrate for this function. In-vivo neuroimaging studies have reported reduced volumes in the thalamus and basal ganglia in individuals with Tourette Syndrome (TS) when compared with healthy controls. However, patterns of neuroanatomical shape that may be associated with these volume differences have not yet been consistently characterized. Tools are being developed at a rapid pace within the emerging field of computational anatomy that allow for the precise analysis of neuroanatomical shape derived from magnetic resonance (MR) images, and give us the ability to characterize subtle abnormalities of brain structures that were previously undetectable. In this study, T1-weighted MR scans were collected in 15 neuroleptic-naïve adults with TS or chronic motor tics and 15 healthy, tic-free adult subjects matched for age, gender and handedness. We demonstrated the validity and reliability of large-deformation high dimensional brain mapping (HDBM-LD) as a tool to characterize the basal ganglia (caudate, globus pallidus and putamen) and thalamus. We found no significant volume or shape differences in any of the structures in this small sample of subjects.

Volume increases in striatum associated with positive symptom reduction in schizophrenia: a preliminary observation.

Eleven drug-free patients with a DSM-IV diagnosis of schizophrenia who were in a period of psychotic exacerbation were treated with antipsychotics for 4 weeks. To evaluate treatment-associated changes in the basal ganglia and in psychotic symptomatology, the patients were studied with magnetic resonance imaging and with the Scale for the Assessment of Positive Symptoms. Serial assessments of striatal volumes and psychotic symptoms were performed at baseline and at 4 weeks of treatment; dual assessments of striatal volumes were also performed in 11 untreated normal controls. Patients and controls did not differ in striatal volumes at baseline, but the patients demonstrated a significant posttreatment increase in striatal tissues (caudate-putamen). An increase in left striatum was not associated with drug treatment itself, but with a reduction of positive symptoms.

Developmental abnormalities in striatum in young bipolar patients: a preliminary study.

OBJECTIVES: Anatomical abnormalities in the basal ganglia of adult mood disorder patients have been reported. To investigate whether these abnormalities are present early in illness course, we compared the volume of striatal structures in young bipolar patients and healthy controls. METHODS: Brain magnetic resonance images of 15 children and adolescents who met DSM-IV criteria for bipolar disorders and 21 healthy controls were obtained. Measurements were performed manually, by trained evaluators, who were blind to subjects' diagnosis. The volumes of caudate and putamen were compared in patients and controls. RESULTS: The volumes of striatal structures were not significantly different in patients and controls (ANCOVA, p > 0.05). However, we found a significant inverse relationship between age and the volumes of left caudate (r = -0.72, p < 0.01), right caudate (r = -0.66, p = 0.02) and left putamen (r = -0.71, p = 0.01) in bipolar patients, not present in healthy controls. CONCLUSIONS: Abnormalities in striatal development may be involved in the pathophysiology of bipolar disorder.

Unilateral absence of the basal ganglia plus epilepsy without motor symptoms.

A patient with absence of the basal ganglia and refractory epilepsy without impairment of pyramidal or extrapyramidal motor function is reported. Imaging findings suggest a vascular insult as etiology. Preserved motor function could be explained by neuronal plasticity involving contralateral corticostriatal and pallidothalamic connections and points to a lesion received in early pregnancy.