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Pontocerebellar Hypoplasia Type 1

Table of Contents

Pontocerebellar Hypoplasia Type 1

PCH1; Pontocerebellar Hypoplasia with Anterior Horn Cell Disease; Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy

Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly.

Cerebellum of a Human Brain

Image by TheVisualMD

Summary

Pontocerebellar hypoplasia Orphanet

Image by Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh5, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur and Diana Rodriguez. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet Journal of Rare Diseases 2012, 7:18 doi:10.1186/1750-1172-7-18/Wikimedia

Pontocerebellar hypoplasia Orphanet

Facial features of patients with pontocerebellar hypoplasia with mutations in the CASK gene. A and B: patient at 1 year (A) and 4 years (B). C: patient, 18 months. D: patient, 13 years. E: patient, 13 years. F: patient, 12 years. Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protuding maxilla, in the older patients.

Image by Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh5, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur and Diana Rodriguez. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet Journal of Rare Diseases 2012, 7:18 doi:10.1186/1750-1172-7-18/Wikimedia

What Is Pontocerebellar Hypoplasia Type 1?

Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, sends signals between the cerebellum and the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells, which are responsible for helping the spinal cord send signals to the muscles. Problems with the anterior horn cells cause severe muscle weakness.

PCH1 is caused by mutations to EXOSC3, TSEN54, RARS2, and VRK1. The disease is inherited in an autosomal recessive manner. Diagnosis of PCH1 is based on brain imaging and tests to rule out other causes of problems with brain development. Treatment for PCH1 is aimed at relieving the symptoms of the disease. Most children with PCH1 pass away in infancy or early childhood.

Source: Genetic and Rare Diseases (GARD) Information Center

Causes

Effect of a mutation

Image by Genomics Education Programme

Effect of a mutation

This image was created by the NHS National Genetics and Genomics Education Centre.

Image by Genomics Education Programme

What Causes Pontocerebellar Hypoplasia Type 1?

EXOSC3 gene. Other genes that have been associated with PCH1 include TSEN54, RARS2, and VRK1. These genes are normally responsible for helping the body process RNA, which is a form of genetic information similar to DNA. When RNA cannot be processed properly, the body does not receive instructions about how it should work and develop. It is thought that the brain and muscles are particularly susceptible to changes in RNA processing. Therefore, when there are changes in any of the genes mentioned above, the body does not process RNA properly, causing the brain and muscles to not work properly.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Genomic variant

There are roughly 4 to 5 million such genomic variants in an individual’s genome. These variants may be unique to that individual or occur in others as well.

Image by National Human Genome Research Institute

Genomic variant

National Human Genome Research Institute

Inheritance

Newborn autosomal recessive pattern of inheritance

Image by Thomas Shafee and TheVisualMD

Newborn autosomal recessive pattern of inheritance

Newborn autosomal recessive pattern of inheritance

Image by Thomas Shafee and TheVisualMD

How Is Pontocerebellar Hypoplasia Type 1 Inherited?

EXOSC3, TSEN54, RARS2, orVRK1 genes must be changed in order to have symptoms of the disease. We inherit one copy of each gene from our mother and the other from our father.

People with a mutation in only one copy of a gene causing PCH1 are known as carriers. Carriers typically do not show signs and symptoms of the disease. When two carriers of PCH1 have children together, for each child there is a:

25% chance that the child will have PCH1
50% chance that the child will be a carrier of PCH1 like the parents
25% chance that the child will have two working copies of the gene, so the child will not have PCH1 and will not be a carrier.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Brain Growth from Birth to 14 Months (Cerebellum)

Image by TheVisualMD

Brain Growth from Birth to 14 Months (Cerebellum)

Explore the brain at four different ages at birth and at 3, 7, and 14 months of age. Views from multiple angles reveal the intricate structure of many of the internal components of the baby brain. Brain growth in an infant`s first year of life is nothing short of remarkable: the brain uses 60% of the total energy consumed by the infant and nearly triples in size.

Image by TheVisualMD

What Are the Signs and Symptoms of Pontocerebellar Hypoplasia Type 1?

Later in the newborn period, other symptoms may become apparent including visual impairment, uncontrolled movements of the eye (nystagmus), and uncontrolled movements of the muscles (ataxia). Babies with PCH1 may struggle to feed at the breast or with a bottle because their swallowing muscles are weakened. After a few months, the baby may have a smaller than typical head size (microcephaly). Affected babies also typically do not meet milestones such as being able to sit up, and they may have intellectual disability.

In some cases, babies affected by PCH1 may not show signs or symptoms of the disease until they are a few months old. In these cases, the baby may have a better long-term outlook than other affected individuals. Individuals who survive past infancy may develop seizures as they get older.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Brain Growth from Birth to 14 Months (Gray Matter)

Explore the brain at four different ages at birth and at 3, 7, and 14 months of age. Views from multiple angles reveal the intricate structure of many of the internal components of the baby brain. Brain growth in an infant`s first year of life is nothing short of remarkable: the brain uses 60% of the total energy consumed by the infant and nearly triples in size.

Image by TheVisualMD

Brain Growth from Birth to 14 Months (Gray Matter)

TheVisualMD

Diagnosis

Pontocerebellar hypoplasia MRI

Image by Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh5, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur and Diana Rodriguez. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet Journal of Rare Diseases 2012, 7:18 doi:10.1186/1750-1172-7-18

Pontocerebellar hypoplasia MRI

MRI examples of patients with pontocerebellar hypoplasia. A. Sagittal images showing spectrum of vermis and pons hypoplasia. Number represents the number of the patient. Figure 9 shows MRI of patient 9 at age 4 months and figure 9b patient 9 at age 11 years. Note that in all patients, the pons is very small but has a relative sparing of his buldging, mainly in its superior part. Hypoplasia predominates at the inferior part of the pons. Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and predominates at the inferior part. V4 is open in most cases. B. Coronal images showing spectrum of cerebellar hemispheric hypoplasia. Number represents the number of the patient. Hemispheres are frequently asymmetric. Note that the vermis does not protrude from the hemispheres indicating similar involvement of the vermis and the hemispheres. This pattern is different from that of PCH2 in which the vermis is relatively spared leading to the classic image of "dragonfly", the protruding vermis being the body of the dragonfly and the hemispheres, the wings. There is no progression of the lesions between successive MRI in patient 9.

Image by Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh5, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur and Diana Rodriguez. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet Journal of Rare Diseases 2012, 7:18 doi:10.1186/1750-1172-7-18

How Is Pontocerebellar Hypoplasia Type 1 Diagnosed?

Source: Genetic and Rare Diseases (GARD) Information Center

Treatment

Manual Therapy Techniques

Image by massagenerds

Manual Therapy Techniques

Manual Therapy Techniques

Image by massagenerds

How Might Pontocerebellar Hypoplasia Type 1 Be Treated?

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

physical therapy

Physical Therapy - The Noun Project icon from the Noun Project

Image by Noun Project - https://thenounproject.com/icon/616 : Author undefined

physical therapy

Noun Project - https://thenounproject.com/icon/616 : Author undefined

Prognosis

Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.

Image by 4144132

Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.

Prognosis varies depending on the type of MND and the age of symptom onset.

Image by 4144132

What Is the Long-Term Outlook for People with Pontocerebellar Hypoplasia Type 1?

EXOSC3gene may be associated with a better prognosis, including a longer estimated survival time.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Pontocerebellar Hypoplasia

Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons. The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain.

Cerebellar Hypoplasia

Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It is a feature of a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders. Common findings are developmental and speech delay, poor muscle tone, ataxia and abnormal eye movements. Learn more.

Lissencephaly with Cerebellar Hypoplasia

Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Explore symptoms, inheritance, genetics of this condition.

Congenital Anomalies

Congenital anomalies, previously referred to as birth defects, are structural (how the body is built) or functional (how the body works) anomalies present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems. Learn about structural anomalies, their causes, their prevention, and their treatments.

Neurologic Diseases

Your nervous system includes your brain, spinal cord, and nerves. Learn about neurologic diseases, including their symptoms, causes, and treatments.

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Pontocerebellar Hypoplasia Type 1

Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly.

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