Transcranial sonography in patients with myotonic dystrophy type 1

Perić, Stojan; Pavlovic, Aleksandra; Ralic, Vesna; Dobričić, Valerija; Basta, Ivana; Lavrnić, Dragana; Stojanović, Vidosava Rakočević

doi:10.1002/mus.24162

Cited by 16 publications

(28 citation statements)

References 37 publications

(58 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Previously, an association between RLS and sonographically detected abnormalities of the Substantia nigra in the sense of hypoechogenicity has been reported [10]. Congruently to the findings of Peric et al [16], we failed to confirm such an association in DMpatients. Also, in both TCS-studies the width of third ventricle was significantly larger in the patient group, most likely to be interpreted as an expression of the cerebral atrophy in myotonic dystrophies.…”

Section: Discussionmentioning

confidence: 63%

“…TCS has become a reliable and sensitive diagnostic tool in the evaluation of extrapyramidal movement disorders, ataxias, and in many neurological disorders with psychiatric symptoms as well as in restless legs syndrome (RLS) [6][7][8][9][10][11][12][13][14][15][16][17][18][19]. This is of particular interest since different features like depression, excessive daytime sleepiness (EDS) and RLS occur frequently in DM 1 and also in DM2 [11][12][13].…”

Section: Introductionmentioning

confidence: 98%

“…A recent transcranial sonography (TCS) study in DM1 has shown brainstem raphe hypoechogenity mostly in DM1 patients which could be correlated to depression and fatigue [16].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

et al. 2014

View full text Add to dashboard Cite

Myotonic dystrophies (DMs) are clinically similar but distinct multisystemic diseases related to different repeat expansion mutations. CNS involvement is one important aspect of both, myotonic dystrophy type 1 and type 2 (DM1, DM2). Transcran ial sonography (TCS) has become a reliable diagnostic tool in the evaluation of several CNS disorders. The aim of this study was to evaluate TCS-findings in DM-patients in correlation with their clinical status. Thirty-one DM-patients (DM1 = 17; DM2 = 14) were examined clinically and sonographically by independent physicians. Echogenicities of basal ganglia and mesencephalic regions were assessed according to the examination protocol for extrapyramidal disorders using a Toshiba Aplio(®) XG ultrasound system. TCS abnormalities were correlated to clinical findings and secondly compared to 31 controls. Ventricle diameters were additionally compared to 3T-MRI volumetry. Nine patients (29 %) showed hyperechogenicity of substantia nigra. Mesencephalic raphe was hypoechogenic in nine (29 %) DM-patients and was more frequently in DM1 patients (p = 0.021). Width of third ventricle was significantly larger in the patient group (p = 0.021) and correlated with MRI-based volumetry (R (2) = 0.756). Pathological raphe signal was observed mainly in patients suffering from daytime sleepiness (sensitivity = 42.1 %, specificity = 88.9 %, p = 0,044), while alterations did not correlate with symptoms of depression. As a novel finding, a relation between mesencephalic raphe echogenicity and excessive daytime sleepiness could be identified in our DM-patients. An alteration of serotonergic raphe structures might be involved in the pathogenesis of hypersomnia in DM. TCS allows for measurement of third ventricle enlargement as a feasible bedside test.

show abstract

Section: Discussionmentioning

confidence: 63%

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

et al. 2014

View full text Add to dashboard Cite

show abstract

“…MRI studies revealed a broad spectrum of abnormalitiers including white and grey matter abnormalities . So far, two studies evaluated TCS findings in patients with DM . Peric et al studied 66 patients with DM type 1 and detected reduced BR echogenicity in 25 (37.7%) of them .…”

Section: Tcs In Depressed Patients With Association To Neurodegeneratmentioning

confidence: 99%

Transcranial Sonography Findings in Depression in Association With Psychiatric and Neurologic Diseases: A Review

Krogias

Walter

2016

Journal of Neuroimaging

View full text Add to dashboard Cite

The transcranial sonography (TCS) finding of reduced echogenicity of brainstem raphe (hypoechogenic BR) has been associated with depressive states. Here, we review the TCS studies in subjects with depressive disorders and with depression related to degenerative brain diseases, and compare the frequency and clinical correlates of hypoechogenic BR in these reports. Summarizing the data published so far, hypoechogenic BR is present in 67% (range, 37-95%) of depressed but only in 15% (5-36%) of nondepressed subjects without history of neurodegenerative disease. The finding of hypoechogenic BR in these subjects is associated with a relative risk of 3.03 (95% CI, 2.44-3.75; P < .001) of being diagnosed with depression. In patients with Parkinson's disease, hypoechogenic BR is present in 63% (35-92%) of depressed but only in 27% (10-62%) of nondepressed patients, resulting in a relative risk of 2.18 (95% CI, 1.80-2.66; P < .001) of being diagnosed with depression. Hypoechogenic BR is associated with depression in a number of neurological disorders such Huntington's disease, idiopathic Rapid Eye Movement (REM) sleep behavior disorder, myotonic dystrophies, and cerebral small vessel disease. Although some studies did not show any relationship between BR echogenicity and severity of depression, others suggest an association with higher severity of depression, or even with suicidal ideation. In one study BR hypoechogenicity was found to be associated with better responsivity to serotonin reuptake inhibitors. Further studies are warranted to compare the TCS findings of BR alteration with post-mortem histopathological findings, and with genetic variants related to cerebral serotonin metabolism.

show abstract

“…TCS can depict abnormalities of the substantia nigra (SN) and basal ganglia that are less easily detected by other techniques . In addition, in patients with myotonic dystrophy type 1 (DM1), TCS has revealed an association between brainstem raphe (BR) hypoechogenicity and depression and fatigue, while diameter of the third ventricle (DTV) was enlarged, reflecting cerebral atrophy in the midline brain areas . Another TCS study revealed BR hypoechogenicity associated with EDS, SN hypoechogenicity, and increased DTV in both DM1 and DM2, but the number of patients in that study was small (17 DM1 and 14 DM2).…”

mentioning

confidence: 99%

Brain sonography insight into the midbrain in myotonic dystrophy type 2

et al. 2015

Self Cite

View full text Add to dashboard Cite

show abstract

Transcranial sonography in patients with myotonic dystrophy type 1

Abstract: TCS can offer new insight into structural changes of several cerebral areas in patients with DM1.

Cited by 16 publications

References 37 publications

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

Transcranial Sonography Findings in Depression in Association With Psychiatric and Neurologic Diseases: A Review

Brain sonography insight into the midbrain in myotonic dystrophy type 2

Contact Info

Product

Resources

About