Brain Changes in Kallmann Syndrome

Manara, Renzo; Salvalaggio, Alessandro; Favaro, Angela; Palumbo, Vincenzo Davide; Citton, Valentina; Elefante, Andrea; Brunetti, Arturo; Salle, Francesco Di; Bonanni, Guglielmo; Sinisi, Antonio Agostino

doi:10.3174/ajnr.a3946

Cited by 31 publications

(27 citation statements)

References 32 publications

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“…While alterations in curvature-based measures have been detected in adult populations in association with dementia (Yin et al, 2014), genetic disorders (Manara et al, 2014), and degree of myelination (Shafee et al, 2015), we found only one curvature-based measure (positive shape index) associated with preterm birth despite differences in cortical folding visible on qualitative inspection of cortical surfaces. This may be related to the nature of the abnormality in preterminfants.…”

Section: Discussioncontrasting

confidence: 58%

Comparison of cortical folding measures for evaluation of developing human brain

et al. 2016

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We evaluated 22 measures of cortical folding, 20 derived from local curvature (curvature-based measures) and two based on other features (sulcal depth and gyrification index), for their capacity to distinguish between normal and aberrant cortical development. Cortical surfaces were reconstructed from 12 term-born control and 63 prematurely-born infants. Preterm infants underwent 2–4 MR imaging sessions between 27 and 42 weeks postmenstrual age (PMA). Term infants underwent a single MR imaging session during the first postnatal week. Preterm infants were divided into two groups. One group (38 infants) had no/minimal abnormalities on qualitative assessment of conventional MR images. The second group (25 infants) consisted of infants with injury on conventional MRI at term equivalent PMA. For both preterm infant groups, all folding measures increased or decreased monotonically with increasing PMA, but only sulcal depth and gyrification index differentiated preterm infants with brain injury from those without. We also compared scans obtained at term equivalent PMA (36–42 weeks) for all three groups. No curvature-based measured distinguished between the groups, whereas sulcal depth distinguished term control from injured preterm infants and gyrification index distinguished all three groups. When incorporating total cerebral volume into the statistical model, sulcal depth no longer distinguished between the groups, though gyrification index distinguished between all three groups and positive shape index distinguished between the term control and uninjured preterm groups. We also analyzed folding measures averaged over brain lobes separately. These results demonstrated similar patterns to those obtained from the whole brain analyses. Overall, though the curvature-based measures changed during this period of rapid cerebral development, they were not sensitive for detecting the differences in folding associated with brain injury and/or preterm birth. In contrast, gyrification index was effective in differentiating these groups.

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Section: Discussioncontrasting

confidence: 58%

Comparison of cortical folding measures for evaluation of developing human brain

et al. 2016

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“…All KS patients participated also to previous MRI studies [Manara et al, 2014[Manara et al, , 2015. We also scanned 24 healthy age-matched control subjects without MM.…”

Section: Experimental Designmentioning

confidence: 99%

“…In KS, anatomical and functional data rely on few neuroimaging studies [Koenigkam-Santos et al, 2008Krams et al, 1997Krams et al, , 1999Leinsinger et al, 1997;Manara et al, 2015;Mayston et al, 1997) that provided conflicting results. Preliminary findings on cortical-spinal tract or corpus callosum hypertrophy in KSMM1 versus KSMM- [Krams et al, 1999;Quinton et al, 1996] were not confirmed in subsequent larger series [Koenigkam-Santos et al, 2008, Manara et al, 2015; abnormal values of the magnetization transfer ratio at the pyramidal decussation were observed in KS patients regardless of the presence of MM [Koenigkam-Santos et al, 2010]; DTI analyses did not reveal structural changes of the cortical-spinal tract in both KSMM1 and KSMMpatients [Manara et al, 2014[Manara et al, , 2015 while T2 relaxation time was unilaterally increased in the right internal capsule posterior limb in spite of bilateral MM [Koenigkam-Santos et al, 2010]. Recently, by whole brain cortical thickness and voxel based morphometry analyses, KSMM1 showed, compared with KSMM-, significant cortical thinning in small regions known to be primarily involved in the voluntary hand motor control (e.g., the hand motor primary cortex) and bilateral volume decrease of the globus pallidus, thus disclosing a profound and complex structural reorganization of the motor circuit [Manara et al, 2015] associated to bimanual synkinesis.…”

Section: Introductionmentioning

confidence: 99%

Spectral signatures of mirror movements in the sensori‐motor connectivity in kallmann syndrome

Manara

Nardo

Salvalaggio

et al. 2017

Human Brain Mapping

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Mirror movements (MM) might be observed in congenital and acquired neurodegenerative conditions but their anatomic-functional underpinnings are still largely elusive. This study investigated the spectral changes of resting-state functional connectivity in Kallmann Syndrome (hypogonadotropic hypogonadism with hypo/anosmia with or without congenital MM) searching for insights into the phenomenon of MM. Forty-four Kallmann syndrome patients (21 with MM) and 24 healthy control subjects underwent task (finger tapping) and resting-state functional MRI. The spatial pattern of taskrelated activations was used to mask regions and select putative motor networks in a spatially independent component analysis of resting-state signals. For each resting-state independent component time-course power spectrum, we extracted the relative contribution of four separate bands: slow-5 (0.01-0.027 Hz), slow-4 (0.027-0.073 Hz), , and analyzed the variance between groups. For the sensorimotor network, the analysis revealed a significant group by frequency interaction (P 5 0.002) pointing to a frequency shift in the spectral content among subgroups with lower slow-5 band and higher slow-3 band contribution in Kallmann patients with MM versus controls (P 5 0.028) and with lower slow-5 band contribution between patients with and without MM (P 5 0.057). In specific regions, as obtained from hand motor activation task analysis, spectral analyses demonstrated a lower slow-5 band contribution in Kallmann patients with MM versus both

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“…In addition, besides the association between OB aplasia/hypoplasia and an ipsilaterally decreased OS depth, further peculiar morphological and structural brain differences have been demonstrated in KS patients. New quantitative MRI analyses have shown surface cortical variations and gray matter and white matter density changes that clustered symmetrically in the frontal basal regions close to the OBs (gyrus rectus, medial orbitofrontal gyrus) . Even though these changes are thought to be induced by rhinencephalon underdevelopment, no study has investigated the relationship between OB volume and the contiguous forebrain cortex.…”

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confidence: 99%