PMID: 6191009Jan 1, 1983

X-linked adult form of spinal muscular atrophy

Journal of Neurology
I Hausmanowa-PetrusewiczZ Janczewski


Neurological and endocrinological studies were carried out in 8 of 12 male patients with X-linked spinal muscular atrophy. In six investigated cases, gynaecomastia was discovered. First muscle symptoms started between 21 and 44 years of age, at which time the patients observed disturbances in their sexual life. In three cases decreased fertility and in two cases sterility was reported. Diagnostic testicular biopsy showed pronounced involutional changes of the Leydig cells. The plasma testosterone level was decreased, while the levels of luteinizing hormone and prolactine were normal, and the follicle stimulating hormone was at a high normal level. The dexamethasone/human chorionic gonadotrophin test revealed a pronounced decrease in the functional reserve of the Leydig cells. It is suggested that all these anomalies are connected with an increased ratio of oestrogen to androgen level.


Jul 1, 1978·Muscle & Nerve·S P RingelH A Lubs
Sep 1, 1978·Journal of the Neurological Sciences·J H Pearn
Sep 1, 1978·Andrologia·Z Janczewski, L Bablok
Apr 1, 1975·Journal of the Neurological Sciences·C StefanisC P Panayiotopoulos
Nov 1, 1970·Journal of the Neurological Sciences·T NambaD Grob
Oct 1, 1970·Steroids·S FuruyamaC A Nugent
Feb 1, 1967·The Journal of Clinical Endocrinology and Metabolism·A R Midgley
Jul 1, 1980·Clinical Endocrinology·I J McFadyenA P Forrest
Mar 1, 1980·Journal of the Neurological Sciences·A E Harding, P K Thomas
Jan 1, 1980·Acta Neurologica Scandinavica·G W PaulsonP J Sweeney
May 1, 1956·A.M.A. Archives of Neurology and Psychiatry·E KUGELBERG, L WELANDER
Jun 1, 1965·Archives of Neurology·H TsukagoshiT TSUBAKI


Mar 1, 1996·Prenatal Diagnosis·C YapijakisC Papageorgiou
Jul 1, 1997·Brain Pathology·M A Nance
May 1, 1986·Journal of Neurology, Neurosurgery, and Psychiatry·J R RichertD Groothuis
Mar 16, 2007·Neuropathology and Applied Neurobiology·H AdachiG Sobue
Jan 26, 2016·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
Mar 1, 1994·Acta Neurologica Scandinavica·W Trojaborg, C H Wulff
Jan 1, 1993·Acta Neurologica Scandinavica·C Ertekin, H Sirin

Related Concepts

Follicle Stimulating Hormone
Infant Gynecomastia
Neurogenic Muscular Atrophy
Genealogical Tree
Seminal Plasma
Sex Chromosome Aberrations
Spinal Cord Diseases

Trending Feeds


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

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

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

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.

© 2021 Meta ULC. All rights reserved