Muscle MRI findings of X-linked spinal and bulbar muscular atrophy

Hamano, Tadanori; Mutoh, Tatsuro; Hirayama, Masaaki; Kawamura, Yasutaka; Nagata, Miwako; Fujiyama, Jiro; Kuriyama, Masaru

doi:10.1016/j.jns.2004.04.028

Cited by 24 publications

(26 citation statements)

References 8 publications

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“…For example, typical muscle MRI findings were reported for neurogenic disorders; benign monomelic amyotrophy of lower limb [8], HTLV-1-associated myelopathy [9], spinobulbar muscular atrophy [10], and Charcot Marie-Tooth disease type IV. Furthermore, myogenic disorders also showed typical muscle MRI findings in inclusion body myositis [11], polymyositis [12], and Duchenne muscular dystrophy [13].…”

Section: Discussionmentioning

confidence: 99%

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Muscle MRI in Myotonic Dystrophy Type 1 with Foot Drop

Hamano¹,

Kawamura

Mutoh³

et al. 2010

Eur Neurol

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The purpose of this study was to investigate the relationship of muscle MRI findings and gait disturbance in myotonic dystrophy type 1 (DM1) patients. Thirteen patients with DM1 were evaluated by manual muscle strength test and muscle MRI of the lower limb. All DM1 patients presenting with foot drop showed high intensity signals in the tibialis anterior muscles on T1-weighted imaging (p < 0.001). The patients presenting with gait disturbance showed high intensity signals in the semimembranosus, vastus intermedius and gastrocnemius medialis muscles, too. Disturbance of the gastrocnemius lateralis muscles was mild in all DM1 patients. The patients without gait disturbance showed no abnormalities, especially in tibialis anterior muscles on muscle MRI. Muscle MRI is useful for the detection of pathological muscles in DM1 patients with gait disturbance.

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Section: Discussionmentioning

confidence: 99%

“…T1-weighted muscle MRI (GE-Signa, 1.5 Tesla) of the lower extremity was carried out in all DM1 patients [8,9,10]. Muscle MRI findings were evaluated by a neurologist (T.H.)…”

Section: Methodsmentioning

confidence: 99%

Muscle MRI in Myotonic Dystrophy Type 1 with Foot Drop

Hamano¹,

Kawamura

Mutoh³

et al. 2010

Eur Neurol

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“…Taken together, these findings suggest that the fat accumulated in the muscle of the case was not intramyocellular, but belonged to adipocytes which emerged in the extramyocellular space. It is well known that, when a skeletal muscle is damaged, it undergoes fatty degeneration in some diseases, including neurogenic amyotrophy (Dulor et al, 1998 4) ; Hamano et al, 2004 3) ) and myopathy (Khaleeli et al, 1983 7) ; Bailey et al, 1996 8) ; Merforth et al, 1999 9) ; Olsen et al, 2003 6) ; Banker et al, 2004 5) ). The present case had suffered from uncontrolled diabetes mellitus, renal failure and hypothyroidism before death.…”

Section: Discussionmentioning

confidence: 99%

“…The latter may be ascribed to fatty degeneration after muscle atrophy and injury. It has been known that neurogenic amyotrophy, such as amyotrophic lateral sclerosis (Hamano et al, 2004 3) ) or denerved muscle atrophy (Dulor et al, 1998 4) ), and myopathies including muscular dystrophy (Banker et al, 2004 5) ) and mitochondrial myopathy (Olsen et al, 2003 6) ) as well as acquired endocrine or metabolic disorders (Khaleeli et al, 1983 7) ; Bailey et al, 1996 8) ; Merforth et al, 1999 9) ) are accompanied by fatty degeneration, or adipocyte accumulation. A muscle has been demonstrated to be almost entirely replaced by adipocytes in a case of Duchenne muscular dystrophy (Banker et al, 2004 5) ) and in rabbits with the experimentally denerved muscle atrophy (Dulor et al, 1998 4) ).…”

Section: Introductionmentioning

confidence: 99%

Human skeletal muscles replaced to a high degree by white adipose tissue

Ina

Kitamura

Masaki

et al. 2011

Okajimas Folia Anat. Jpn.

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Summary: Extreme replacement of skeletal muscles by adipose tissue was found in an 86-year old Japanese male cadaver during dissection practice for medical students at Oita University School of Medicine. Especially, the bilateral sartorius muscles looked overall like adipose tissue. The man had suffered from diabetes mellitus, renal failure, hypertension and hypothyroidism before his death. He was also an alcohol drinker. He had been bedridden late in life. The cause of death was renal failure. In microscopy, the adipose tissue-like sartorius muscle was shown to consist of leptin-positive adipocytes with a small number of degenerated muscle fibers. Fatty replacement, or fatty degeneration, appears to result from endocrine and metabolic disorders, and being bedridden leads to muscle atrophy and damage, although the origin of the adipocytes which emerged in the degenerated muscles is unknown.

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“…Muscle MRI has the potential to be a good biomarker of disease progression in SBMA [102]. A small study on muscle MRI showed that imaging can indeed be used to quantify muscle atrophy and detect hyperintensities in SBMA patients [110]. Future, longitudinal studies are also needed to investigate the value of spinal cord imaging, especially since the measure of spinal cord atrophy has been demonstrated to be a sensitive index of motor neuron loss both in amyotrophic lateral sclerosis [111] [112] and in SMA [113].…”

Section: Biomarkersmentioning

confidence: 99%

Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy

2017

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Acknowledgments: the authors thank AFM-Téléthon, Téléthon Biobank, Institut pour la Recherche sur la Moelle épinière et l'Encéphale (IRME), Association pour la Recherche sur la SLA (ARSla) and the University of Padova for their research support.Kennedy disease (X-Linked recessive Bulbospinal Neuronopathy): a comprehensive review from pathophysiology to therapy. AbstractKennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, Xlinked recessive neuromuscular disease. It is caused by expansion of a CAG repeat sequence in exon 1 of the androgen-receptor (AR) gene, encoding a poly-glutamine (polyQ) tract. Poly-Q-expanded AR accumulates in nuclei and initiates degeneration and loss of motor neurons and dorsal root ganglia. The disease has been retained to be a pure lower motor neuron disease for a long time, but recently the presence of important hyper-Creatine-Kinase-emia and of myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide proportion of clinical manifestations. The disease, that affects male adults, is characterized by muscle weakness and atrophy localized proximally in the limbs and by bulbar involvement. Sensory disturbances are associated to the motor phenotype but may be subclinical. The most frequent systemic symptom is gynecomastia related to androgen insensitivity, but other abnormalities, such as heart rhythm and urinary disturbances, have also been reported. The course of the disease is slowly progressive with normal life expectancy. The diagnosis of SBMA is based on genetic testing, with 38 CAG repeats retained to be pathogenic. Even though several therapeutic attempts have been made in mouse models, no effective disease modifying therapy is available but symptomatic therapy is beneficial for the management of weakness, fatigability and bulbar symptoms.

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Muscle MRI findings of X-linked spinal and bulbar muscular atrophy

Cited by 24 publications

References 8 publications

Muscle MRI in Myotonic Dystrophy Type 1 with Foot Drop

Muscle MRI in Myotonic Dystrophy Type 1 with Foot Drop

Human skeletal muscles replaced to a high degree by white adipose tissue

Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy

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