A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.
Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations
A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity
Distal type of chronic spinal muscular atrophy. Clinical, electrophysiological and pathological studies
Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Kugelberg-Welander disease and its variant of late onset in one pedigree
Progressive motor neuron disease in adults; a clinical study with special reference to the course of the disease
Assessment of upper and lower motor neurons in Kennedy's disease: implications for corticomotoneuronal PSTH studies
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
Muscle cramp as the result of impaired GABA function--an electrophysiological and pharmacological observation
Primary sensory neurons in X-linked recessive bulbospinal neuropathy: histopathology and androgen receptor gene expression
Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): an electrophysiological study
Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers
Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy
Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy
Androgen receptor mRNA with increased size of tandem CAG repeat is widely expressed in the neural and nonneural tissues of X-linked recessive bulbospinal neuronopathy
Aberrant androgen action and increased size of tandem CAG repeat in androgen receptor gene in X-linked recessive bulbospinal neuronopathy
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family
Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families
Medical technology assessment. Electrodiagnosis in motor neuron diseases and amyotrophic lateral sclerosis
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
Maximal and minimal motor conduction velocity in amyotrophic lateral sclerosis and X-linked bulbospinal muscular atrophy measured by Harayama's collision method
Very late onset X-linked recessive bulbospinal neuronopathy: mild clinical features and a mild increase in the size of tandem CAG repeat in androgen receptor gene
Progress in clinical neurosciences: the evidence for ALS as a multisystems disorder of limited phenotypic expression
Regional cerebral blood flow and neuropsychological performance in a Danish family with X-linked bulbo-spinal neuronopathy
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females
Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet
Discrimination of spinal and bulbar muscular atrophy from amyotrophic lateral sclerosis using sensory nerve action potentials
Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy
Decreased cortical somatosensory finger representation in X-linked recessive bulbospinal neuronopathy (Kennedy disease): a magnetoencephalographic study
Correlation between the CAG repeat size and electrophysiological findings in patients with spinal and bulbar muscular atrophy
Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease
Random X chromosome methylation patterns in the carriers with clinical phenotypic expressions of X-linked recessive bulbospinal neuronopathy
Soluble androgen receptor oligomers underlie pathology in a mouse model of spinobulbar muscular atrophy
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism.
Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy
Muscle BDNF improves synaptic and contractile muscle strength in Kennedy's disease mice in a muscle-type specific manner.
Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease
Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.
Alzheimer's Disease: MS4A
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Genetic Screens in iPSC-derived Brain Cells
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Chronic Fatigue Syndrome
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Pharmacology of Proteinopathies
This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.
Alignment-free Sequence Analysis Tools
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