Brain sonography insight into the midbrain in myotonic dystrophy type 2

Rakočević-Stojanović, Vidosava; Perić, Stojan; Savić‐Pavićević, Dušanka; Pešović, Jovan; Mesaroš, Šarlota; Lavrnić, Dragana; Jovanović, Ž.; Pavlovic, Aleksandra

doi:10.1002/mus.24927

Cited by 12 publications

(6 citation statements)

References 32 publications

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“…No correlation with the substantia nigra with depression or fatigue were found. 111 All the above-described neuroimaging evidence suggests a brain involvement in DM2 strengthened by clinical data milder than DM1.…”

Section: Myotonic Dystrophy Type 1: Steinert’s Diseasementioning

confidence: 90%

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Advances in imaging of brain abnormalities in neuromuscular disease

Angelini

Pinzan

2019

Ther Adv Neurol Disord

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Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting the main libraries ( Pubmed, Scopus and Google Scholar) including the more common forms of muscular dystrophies such as dystrophinopathies, dystroglycanopathies, myotonic dystrophies, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, congenital myotonia, and congenital myopathies. A consistent, widespread cortical and subcortical involvement of grey and white matter was found. Abnormalities in the functional connectivity in brain networks and metabolic alterations were observed with positron emission tomography (PET) and single photon emission computed tomography (SPECT). Pathological brain changes with cognitive dysfunction seemed to be frequently associated in NMDs. In particular, in congenital muscular dystrophies (CMDs), skeletal muscular weakness, severe hypotonia, WM abnormalities, ventricular dilatation and abnormalities in cerebral gyration were observed. In dystroglycanopathy 2I subtype (LGMD2I), adult patients showed subcortical atrophy and a WM periventricular involvement, moderate ventriculomegaly, and enlargement of subarachnoid spaces. Correlations with clinical features have been observed with brain imaging characteristics and alterations were prominent in congenital or childhood onset cases. In myotonic dystrophy type 2 (DM2) symptoms seem to be less severe than in type 1 (DM1). In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. Late-onset glycogenosis type II (GSD II) or Pompe infantile forms are characterized by delayed myelination. Only in a few cases of oculopharyngeal muscular dystrophy (OPMD) central nervous system involvement has been described and associated with executive functions impairment.

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Section: Myotonic Dystrophy Type 1: Steinert’s Diseasementioning

confidence: 90%

“…65 Only two studies using TCS have been published. 105,111 Significant enlargement of the third ventricle in patients with DM2 compared with controls was found. A correlation between the pathological raphe signal and excessive daytime sleepiness (EDS) was detected.…”

Section: Myotonic Dystrophy Typementioning

confidence: 95%

Advances in imaging of brain abnormalities in neuromuscular disease

Angelini

Pinzan

2019

Ther Adv Neurol Disord

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“…Rakocevic-Stojanovic et al performed transcranial sonography studies on 40 DM2 patients ( 90 ). They revealed higher frequencies of brainstem raphe hypoechogenicity and substantia nigra hyperechogenicity and increased diameter of the third ventricle (DTV).…”

Section: Introductionmentioning

confidence: 99%

Current Progress in CNS Imaging of Myotonic Dystrophy

2018

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Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain involvement which is highly prevalent in these multisystemic disorders. Particular in Myotonic Dystrophy Type 1, conventional MRI first revealed hyperintense white matter lesions, predominantly localized in the anterior temporal lobe. Brain atrophy and ventricle enlargement were additional early findings already described almost 30 years ago. Since then, more advanced and sophisticated imaging methods have been applied in Myotonic Dystrophy Types 1 and 2. Involvement of actually normal appearing white matter and widespread cortical affection in PET studies were key results toward the recognition of diffuse and not only focally localized brain pathology in vivo. Later, structural abnormalities of both, gray and white matter, have been found in both forms of the disorder, albeit more prominent in myotonic dystrophy type 1. In Type 1, a consistent widespread cortical and subcortical involvement of gray and white matter affecting all lobes, brainstem and cerebellum was observed. Spectroscopy studies gave additional evidence of neuronal and glial damage in both types. Central questions regarding the origin and spatiotemporal evolution of the CNS involvement and its relevance for clinical symptoms had already been raised 30 years ago, however are still not answered. Results of correlation analyses between neuroimaging and clinical parameters are diverse and with few exceptions not well reproducible across studies. It may be related to the fact that most of the reported studies included only small numbers of subjects, sometimes even not separating Myotonic Dystrophy Type 1 from Type 2. But this heterogeneity may also support the current point of view that the clinical impairments are not simply linked to specific and regionally circumscribed structural or functional brain alterations. It seems more convincing that disturbed networks build the functional and structural substrate of clinical symptoms in these disorders as it is proposed in other neuropsychiatric diseases. Consecutively, structural and functional network analyses may provide additional information regarding the link between brain pathology and clinical symptoms. Up to now, only cross-sectional neuroimaging studies have been published. To analyze the temporal evolution of brain affection, longitudinal studies are urgently needed, and systematic natural history data would be useful to identify potential biomarkers for therapeutic studies.

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“…The hyperechogenicity of SN has high accuracy in the diagnosis of PD [2]. The hypoechogenicity of BR has been found to be associated with depression in a number of neurological disorders such as Parkinson’s disease (PD) [3], Huntington’s disease [4], idiopathic Rapid Eye Movement (REM) sleep behavior disorder [5], myotonic dystrophies [6] and cerebral small vessel disease [7]. Recently, the hypoechogenicity of BR has been proposed as biomarker for depression in PD [3], and even it can be used to improve detection of depressive symptoms in early PD stages where affective disturbances may not be recognized by clinicians in the context of PD phenomena [8].…”

Section: Introductionmentioning

confidence: 99%

Hypoechogenicity of brainstem raphe correlates with depression in migraine patients

et al. 2019

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BackgroundBrainstem raphe (BR) hypoechogenicity in transcranial sonography (TCS) has been depicted in patients with major depression (MD) and in depressed patients with different neurodegenerative diseases. But, up to date, the association of BR alterations in TCS with depression in migraineurs has never been reported. This study was to investigate the possible role of BR examination via TCS in migraineurs with depression.MethodsForty two migraine without aura (MwoA) patients and 40 healthy controls were recruited. Echogenicity of lentiform nuclei (LN), caudate nuclei (CN), substantia nigra (SN) and brainstem raphe (BR) and width of the frontal horns of the lateral ventricles and the third ventricle were assessed with TCS. The diagnosis of depression was based on the criteria of the Diagnostic and Statistical Manual of Mental Disorders IV (DSM –IV), and the severity of depression was measured by Hamilton Rating Scale for Depression (HAM-D) and Hospital Anxiety and Depression Scale depression subscale (HADS-D).ResultsThere were no significant differences between migraineurs and controls in the width of frontal horn of the lateral ventricle (p = 0.955), width of third ventricle (p = 0.129) as well as in the echogenicity of SN (p = 0.942), CN (p = 0.053), LN (p = 0.052) and BR (p = 0.677). Here, it seems that more migraineurs were detected with increased echogenecity of CN and LN compared with controls (33.3% versus 15.0% for CN, 19.0% versus 5.0% for LN) though they had no statistical significance. Patients with hypoechogenic BR had significantly higher HAM-D and HADS-D scores than those with normal BR signal (p = 0.000 for both HAM-D and HADS-D), and most (83.33%) migraineurs with depression exhibited hypoechogenic raphe but none (0.00%) of the migraineurs without depression exhibited hypoechogenic raphe (p = 0.000).ConlusionsTCS signal alteration of BR can be a biomarker for depression in migraine but it is not associated with migraine headache itself. LN and CN alterations in TCS may reflect a potential role of them in the pathogenesis of migraine, which needs to be further elucidated.

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Brain sonography insight into the midbrain in myotonic dystrophy type 2

Abstract: Finding BR hypoechogenicity might have clinical implication because of the potential response to serotonin-reuptake inhibitors. TCS revealed alterations in brain structures previously not seen in MRI studies.

Cited by 12 publications

References 32 publications

Advances in imaging of brain abnormalities in neuromuscular disease

Advances in imaging of brain abnormalities in neuromuscular disease

Current Progress in CNS Imaging of Myotonic Dystrophy

Hypoechogenicity of brainstem raphe correlates with depression in migraine patients

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