And Laboratory Investigations

Adult polyglucosan body disease (APBD) is a rare autosomal recessive neurological disorder with an onset in the fifth to seventh decade of life. The clinical features consist of pyramidal tract signs, peripheral neuropathy with motor deficits, and usually pronounced distal sensory loss predominantly involving the lower limbs, hyper- or hypoactive reflexes, and urinary incontinence due to a neurogenic bladder. Most patients develop dementia, especially in the later stages of the disease....

Mitochondria and Mitochondrial Disorders

Fatty Acid Oxidation Disorder

23.1 Mitochondrial Structure and Function Mitochondria are membranous organelles that provide the energy necessary for the different cell functions. They are called mitochondria because of their threadlike appearance Greek mitos thread on light microscopy. On electron microscopy they appear as vesicles bounded by two membranes. The inner membrane is thrown into folds that project like shelves into the mitochondria. These projections are called cristae. Mitochondria consist of four compartments...

Myelination

Myelin The Brain

It was Flechsig 1920 who originally put forward the view that the degree of myelination of the CNS might be correlated with functional capacity. In his theory he stated that myelination started in projection pathways before association pathways, in peripheral nerves before central pathways, and in sensory areas before motor ones. Although he modified his theory slightly in response to his critics, he continued to maintain that fibers always myelinated in the same order first the afferent...

Mitochondrial Encephalopathy with Lactic Acidosis and Strokelike Episodes

Hashimoto Encephalopathy Mri

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes constitute the MELAS acronym. The disease shows maternal inheritance with considerable intrafamilial variation in expression of the disease. The age at onset varies between 3 months and 40 years, but in most cases first signs and symptoms occur before adulthood. Early development is normal in the majority of patients. The first manifestations of disease usually belong to the group of general features of...

Classification of Myelin Disorders

The history of classifications of myelin disorders shows how each classification reflects the state of scientific development of its time. A revised classification based on the most recent scientific insights is proposed at the end of this chapter. Interest in CNS myelin dates back to the nineteenth century. In 1854, Virchow was the first to suggest the name 'myelin' when he described the sheaths around axons in the CNS. It is not certain when Schwann 1810-1882 first described the cells since...

Metachromatic Leukodystrophy

Metachromatic Leukodystrophy Mri

Metachromatic leukodystrophy MLD is an autosomal recessive progressive disorder. Its incidence is estimated to be 1 40,000. The disease can be divided into three subtypes the late infantile 40 of the patients with MLD , juvenile 40 , and adult 20 variants. This subdivision is based on the age at onset, the duration, and the clinical picture of the disease. As a rule, only one variant of MLD occurs within one family, although exceptions have been reported. The age of onset in the late infantile...

Info

Glutaric Aciduria Type

Pattern of thiamine deficiency, which is very similar to that of Leigh syndrome cf. Fig. 3.8 . An important difference is that in thiamine deficiency the mamillary bodies are involved in most cases, whereas in Leigh syndrome they are not Fig. 3.9. Pattern of thiamine deficiency, which is very similar to that of Leigh syndrome cf. Fig. 3.8 . An important difference is that in thiamine deficiency the mamillary bodies are involved in most cases, whereas in Leigh syndrome they are not in...

Status Marmoratus

Pyramidal Tract Mesencephalon

Patterns of sulcus configuration for gyral development score 2 A or B , score 3 C , and score 4 D . From Van der Knaap et al. 1996 , with permission ent brain areas using a five-point scoring system Fig. 4.5 1 The surface is smooth without gyri and sulci or there is, at most, some undulation of the cortical surface area. 2 Width of the gyri is greater than the depth of the sulci. 3 Width of the gyri is equal to the depth of the sulci. 4 Width of the gyri is less than the depth of...

GM2 Gangliosidosis

Gangliosidosis Mri

GM2 gangliosidoses are inherited disorders of GM2 ganglioside metabolism. Its inheritance is autosomal recessive. There are three major, biochemically distinct types B, O, and AB. Among the B and O types, infantile, juvenile, and adult forms can be distinguished the AB variant is known only as an infantile form. Infantile type B is the classic Tay-Sachs disease TSD , and infantile type O is the same as Sandhoff disease SD . TSD is common in Ashkenazi Jews of eastern European origin. In the...

Myelin Disorders Definitions

'Demyelination' means, literally loss of myelin and the literal interpretation of 'demyelinating disorders' is disorders characterized by loss of myelin. The term demyelination is commonly used to indicate the process of losing myelin, which is caused by primary involvement of oligodendroglia or myelin membranes. Myelin loss that is secondary to axonal loss and simultaneous loss of axons and myelin sheaths is not usually included under the heading of demyelina-tion. However,there is...

Linked Adrenoleukodystrophy

Adrenoleukodystrophy

X-linked adrenoleukodystrophy XALD is a genetically determined disorder that mainly involves the adrenal cortex and the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The rapidly progressive childhood cerebral form accounts for about one-third of the cases. Adreno-myeloneuropathy AMN has a later onset and slower progression and accounts for about 40-45 of the patients. The relative frequency of the Addison-only form varies with age and accounts for up to...

Globoid Cell Leukodystrophy Krabbe Disease

Krabbe Disease Symptoms

Globoid cell leukodystrophy GLD , also known as Krabbe disease,is a progressive white matter disorder with autosomal recessive inheritance. A number of clinical types can be distinguished,which differ in age of onset and in the rate of clinical deterioration. The early infantile or classic type is the most common. Its incidence is estimated at 1-2 in 100 000. The other types are congenital,late-infantile, juvenile, and adolescent-adult. As a rule only one variant of GLD occurs within one...

Multiple Sulfatase Deficiency

Chromosomal Perivascular Spaces

Multiple sulfatase deficiency MSD is a very rare disorder with an autosomal recessive mode of inheritance. It occurs with a prevalence of about 1 in 1.4 million births. The disease combines the features of metachromatic leukodystrophy and mucopolysac-charidosis. It is also called mucosulfatidosis, Austin variant or variant O. Three different types of MSD have been described a neonatal form, an early-childhood form and a very rare juvenile form. The early-childhood form is the usual, or classic,...

GM1 Gangliosidosis

Sagittal Sequence Showing Empty Sella

GM1 gangliosidosis is an autosomal recessive disorder of GM1 metabolism, resulting in variable neural and visceral accumulations. Three forms can be distinguished infantile or type 1 GM1 gangliosidosis, juvenile or type 2 GM1 gangliosidosis, and adult, chronic or type 3 GM1 gangliosidosis. Type 1 infantile GM1 gangliosidosis presents at or soon after birth, signs being poor sucking and feeding. The child is hypotonic and hypoactive and soon develops facial and peripheral edema. At times...

Pathogenetic Considerations

Occipital Lymph Node Mri

The biochemical findings of an isolated accumulation of VLCFA in the absence of abnormal bile acid intermediates are consistent with an isolated deficiency of fatty acyl-CoA oxidase. Bile acid intermediates have their own CoA oxidase, whereas bifunctional protein and thiolase are active for all substances -oxidized in peroxisomes. The gene encoding acyl-CoA oxidase or palmitoyl-CoA oxidase, ACOX1, is located on chromosome 17q25. Two peroxisomal disorders, peroxisomal acyl-CoA oxidase deficiency...

Magnetic Resonance Imaging

Morquio Syndrome Brain

The MRI abnormalities found in MPS vary greatly in severity from absent or negligible to severe, with a marked variation among sibs. However, in themselves, the abnormalities are fairly homogeneous. Over the years many patients develop white matter abnormalities. These consist of multiple small spotlike lesions dispersed in the white matter, with a predilection for the parietal and occipital white matter. The signal intensity follows the signal intensity of CSF, indicative of the cystic nature...

And Mitochondrial Leukoencephalopathies

Pyruvate Dehydrogenase Deficiency Mri

Leigh syndrome, also called subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder mainly occurring in infancy and childhood. The disease often starts before 1 year of age and leads to death in months or years. Juvenile and adult-onset forms have also been described. In most cases the disease has an autosomal recessive inheritance in some cases inheritance is maternal or X-linked. Both sexes are affected, but among infants there is a 3 2 male predominance. The course can be...

Kearns Sayre Syndrome

Kearns Sayre Syndrome

Series of T2-weighted images showing the classic triad of late sequelae of recurrent or prolonged partial hypoxia-ischemia in a preterm neonate periventricular leukomalacia.There is a periventricular rim of signal abnormality the ventricles have an irregular border, especially in the trigonum and occipital horns and there is loss of white matter volume, the sulci in the parietooccipital region abutting the ventricular walls Fig. 3.11. Series of T2-weighted images showing the classic...