scholarly journals Computed Tomography of Posterior Fossa in Hereditary Ataxias

1979 ◽  
Vol 6 (2) ◽  
pp. 195-198 ◽  
Author(s):  
R. Langelier ◽  
J.P. Bouchard ◽  
R.B Ouchard
Keyword(s):  
Computed Tomography ◽  
Central Nervous System ◽  
Nervous System ◽  
Posterior Fossa ◽  
Autosomal Recessive ◽  
Cerebellar Atrophy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Hereditary Ataxias ◽  
The Central Nervous System

SummaryNine cases of Friedreich's ataxia and seven cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) were submitted to neuroradiological procedures to determine the extent of atrophie processes in the central nervous system. All cases had a computerized cerebral tomography and five were studied with pneumencephalo-graphy. The results show a correlation between the two tests and the comparison between Friedreich's ataxia and ARS ACS.In Friedreich's ataxia, the radiological signs are variable and discrete in most of the cases. In A RSA CS there are constant signs of cerebellar atrophy almost limited to the superior parts of the vermis and anterior lobes.

scholarly journals Prenatal diagnosis of posterior fossa anomalies: An overview

2009 ◽  
Vol 62 (3-4) ◽  
pp. 157-163 ◽  
Author(s):  
Aleksandra Novakov-Mikic ◽  
Katarina Koprivsek ◽  
Milos Lucic ◽  
Zoran Belopavlovic ◽  
Sinisa Stojic ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Posterior Fossa ◽  
Multidisciplinary Approach ◽  
Three Dimensional ◽  
Cerebellar Atrophy ◽  
Alternative Approach ◽  
The Central Nervous System

Ultrasonography of the central nervous system is an integral part of a prenatal scan, and the development of imaging technologies has led to better diagnostic possibilities. Posterior fossa anomalies have traditionally been divided into Dandy Walke malformation, Dandy Walker variation and megacisterna magna, but this approach, due to diversity of the extensive number of possible disorders covered by this classification, unables accurate prognosis and therefore adequate counselling. An alternative approach to the classification of posterior fossa anomalies is to divide them into agenesis of the vermis, which could be partial or complete, cerebellar hypoplasia, pontocerebellar hypoplasia and cerebellar atrophy. Different ultrasonographic and magnetic resonance imagining of appearances of the posterior fossa anomalies in prenatal period are discussed in the article, as well as possible syndromes and prognosis of different entities. Diversity of anomalies of the central nervous system, and in particular, subtle differences in prenatal appearances of posterior fossa anomalies, which may have major impact on the prognosis, demand a multidisciplinary approach that encompasses two-dimensional and three-dimensional ultrasound scan, magnetic resonance imaging, infectious diseases and metabolic disorders work-ups as well as individual approach to every case involving of a team of experts in the field of perinatology, radiology, paediatrics, neurology and genetics.

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

Neurology ◽  
1997 ◽  
Vol 49 (2) ◽  
pp. 606-610 ◽  
Author(s):  
L. Montermini ◽  
S. J. Kish ◽  
S. Jiralerspong ◽  
J. B. Lamarche ◽  
M. Pandolfo
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Somatic Mosaicism ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Triplet Repeat ◽  
Repeat Expansions ◽  
The Central Nervous System

Tumors of the central nervous system studied by computed tomography and ultrasound.

Radiology ◽  
1985 ◽  
Vol 154 (2) ◽  
pp. 393-399 ◽  
Author(s):  
D R Enzmann ◽  
R Wheat ◽  
W H Marshall ◽  
R Bird ◽  
K Murphy-Irwin ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Central Nervous System ◽  
Nervous System ◽  
The Central Nervous System

A Diagnostic Pointer to Adult Metachromatic Leucodystrophy

1980 ◽  
Vol 137 (2) ◽  
pp. 186-187 ◽  
Author(s):  
John A. O. Besson
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Demyelinating Disease ◽  
Initial Manifestation ◽  
The Central Nervous System ◽  
Metachromatic Leucodystrophy ◽  
Arylsulphatase A ◽  
Recessive Defect

Adult metachromatic leucodystrophy (MLD) is a rare demyelinating disease of the central nervous system caused by a genetic autosomal recessive defect and mediated through a deficiency in the enzyme arylsulphatase A (Peiffer, 1970). The initial manifestation may take the form of symptoms suggestive of schizophrenia or dementia (Sourander et al, 1962; Austin et al, 1968).

Mucopolysaccharidosis in Adults

2016 ◽  
Author(s):  
Christian J. Hendriksz ◽  
Francois Karstens
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Cell Types ◽  
Type Ii ◽  
System P ◽  
Different Types ◽  
The Central Nervous System ◽  
Different Cell Types

There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.

scholarly journals Merosin-positive congenital muscular dystrophy: neuroimaging findings

2007 ◽  
Vol 65 (1) ◽  
pp. 167-169
Author(s):  
André Palma da Cunha Matta ◽  
Márcia de Castro Diniz Gonsalves
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Congenital Muscular Dystrophy ◽  
Metabolic Changes ◽  
Resonance Spectroscopy ◽  
Muscle Dystrophy ◽  
Metabolic Disturbances ◽  
The Central Nervous System ◽  
The Brain

Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.

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