Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | |
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Specialty | Medical genetics |
Prevention | None |
Frequency | Higher among Jewish families in Caucasus, Israel |
Deaths | - |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare hereditary autosomal recessive malformation syndrome of the central nervous system characterized by profound motor delays and intellectual disabilities, progressive microcephaly, hypertonia, spasticity, clonus and epilepsy. MRI findings include severe cerebellar and cerebral deterioration (atrophy) and impaired myelination. [1] [2] [3] [4] [5] This condition is an example of consequences from the Founder effect, especially that of Jewish populations. [6] [7]
It has been described in 5 infants from 4 Israeli families of ethnic Caucasus Jewish descent. The genetic cause was found to be a homozygous mutation of the MED17 gene, located in chromosome 11, this mutation is called L371P. [8]
In vitro functional expression assays of the L371P mutation showed that it results in a functionally inactive MED17 protein. [8]
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Lissencephaly is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as agyria and pachygyria are used to describe the appearance of the surface of the brain.
Microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
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X-linked spinal muscular atrophy type 2, also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons.
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Gustavson syndrome, also known as Severe X-linked intellectual disability, Gustavson type, is a rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, developmental delay, optic atrophy-induced severe vision impairment/loss, severe hearing loss, spasticity, epilepsy, hypomobility of major joints, facial dysmorphisms, and premature death. Some other frequent symptoms include severe postnatal growth retardation, infantile apnea, brain atrophy, dilation of the fourth cerebral ventricle, recurrent upper respiratory tract infections, and a small fontanelle. This disorder was first discovered in 1993, by Gustavson et al., when they described 7 male children from a 2-generation family, these children had the symptoms mentioned above, they came to the conclusion that this case was part of a novel X-linked recessive syndrome. No new cases have been reported since then (1993).
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