scholarly journals Chorea-Acanthocytosis: Report of a Family and Neuropathological Study of Two Cases

1989 ◽  
Vol 16 (4) ◽  
pp. 426-431 ◽  
Author(s):  
Ma. Elisa Alonso ◽  
Fernanda Teixeira ◽  
Guillermo Jimenez ◽  
Alfonso Escobar
Keyword(s):  
Autosomal Recessive ◽  
Gastrocnemius Muscle ◽  
Muscular Atrophy ◽  
Neuronal Loss ◽  
Autosomal Recessive Inheritance ◽  
Normal Serum ◽  
Neurological Illness ◽  
Neurogenic Muscular Atrophy ◽  
Fourth Decade ◽  
Marked Atrophy

ABSTRACT:We report three siblings, offspring of normal consanguineous parents, with a progressive neurological illness that began in midlife and was characterized primarily by chorea and leading to death in the fourth decade. The proband had erythrocyte acanthocytosis with normal serum β-lipoprotein. Biopsy of left gastrocnemius muscle showed neurogenic muscular atrophy. There was a decrease in the numbers of large myelinated axons of the sural nerve. Postmortem examination of two cases showed marked atrophy, neuronal loss and gliosis of the caudate nucleus and putamen. Autosomal recessive inheritance is likely in this family.

scholarly journals Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report

2013 ◽  
Vol 2 (2) ◽  
pp. 76-80
Author(s):  
K Gangadhar ◽  
S Patwari ◽  
A Verma ◽  
Kaviyarasy
Keyword(s):  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Autosomal Recessive Inheritance ◽  
Early Age ◽  
Recessive Inheritance ◽  
Fourth Decade ◽  
The Mean ◽  
Almost All ◽  
Functional Deterioration ◽  
Subcortical Cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease first described by van der Knaap et al, in 1995. MLC is a relatively new entity of neurodegenerative disorder of autosomal recessive inheritance characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms and an extremely slow course of functional deterioration. The degree of macrocephaly is variable and can be as much as 4-6 SD above the mean. Almost all patients have seizures from an early age. Some patients have died in their 2nd and 3rd decades but few may live till fourth decade. We report a case of 5-year-old girl diagnosed to have this disease. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 76-80 DOI: http://dx.doi.org/10.3126/njr.v2i2.7691

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Tart Cherry (Fruit of Prunus cerasus) Concentrated Powder (TCcp) Ameliorates Glucocorticoid-Induced Muscular Atrophy in Mice

Medicina ◽  
2021 ◽  
Vol 57 (5) ◽  
pp. 485
Author(s):  
Sae-Kwang Ku ◽  
Jong-Min Lim ◽  
Hyung-Rae Cho ◽  
Khawaja Muhammad Imran Bashir ◽  
Young Suk Kim ◽  
...  
Keyword(s):  
Gastrocnemius Muscle ◽  
Muscular Atrophy ◽  
Muscle Protein ◽  
Oral Treatment ◽  
Calf Muscle ◽  
Prunus Cerasus ◽  
Tart Cherry ◽  
Muscle Weight ◽  
Beneficial Effects ◽  
Antioxidant Defense Systems

Background and Objectives: The present study investigated the beneficial effects of tart cherry (fruit of Prunus cerasus) concentrated powder (TCcp) on glucocorticoid (GLU)-induced catabolic muscular atrophy in the skeletal muscle of mice. Furthermore, its potential mechanism was also studied. Materials and Methods: Changes in calf thickness, calf muscle weight, calf muscle strength, body weight, gastrocnemius muscle histology, immunohistochemistry, serum creatinine, creatine kinase, lactate dehydrogenase, and antioxidant defense systems were measured. Malondialdehyde, reactive oxygen species, glutathione content, catalase, and superoxide dismutase activities in the gastrocnemius muscle, and muscle-specific mRNA expressions were evaluated. Results: After 24 days, GLU control mice showed muscular atrophy at all criteria of indexes. The muscular atrophy symptoms were significantly inhibited by oral treatment with 250 mg/kg and 500 mg/kg of TCcp through antioxidative and anti-inflammatory modulated expression of genes involved in muscle protein degradation (myostatin, atrogin-1, SIRT1, and MuRF1) and synthesis (A1R, Akt1, TRPV4, and PI3K). Conclusions: This study shows that the TCcp (500 mg/kg and 250 mg/kg) could improve muscular atrophies caused by various etiologies.

A case report of extended neurogenic muscular atrophy related to SAPHO syndrome

2013 ◽  
Vol 35 (3) ◽  
pp. 479-481
Author(s):  
Fang Ye ◽  
Jianhua Feng ◽  
Jing Liu
Keyword(s):  
Case Report ◽  
Muscular Atrophy ◽  
Sapho Syndrome ◽  
Neurogenic Muscular Atrophy

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly
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