What is Pontocerebellar?

The term “pontocerebellar” refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem , where it transmits signals between the cerebellum and the rest of the brain.

Is Pontocerebellar hypoplasia life expectancy?

In most cases, the disease is uniformly fatal early in life. Life span has ranged from death in the perinatal period to about 20-25 years of age. Only a few individuals-usually patients with PCH type 2-have survived to the second and third decades of life.

Is cerebellar atrophy normal?

Diffuse atrophy of the cerebellum refers to a progressive and irreversible reduction in cerebellar volume. It is a relatively common finding and found in a wide variety of clinical scenarios.

Is Pontocerebellar hypoplasia curable?

There is no known cure for PCH.

What is PCH9?

PCH9 is characterised by progressive atrophy of the cerebellum and brainstem, progressive postnatal microcephaly, small or absent corpus callosum and a distinctive midbrain “figure of 8” appearance on axial magnetic resonance (MR) imaging.

What is Joubert syndrome?

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination — as well as a malformed brain stem (molar tooth sign).

What does Pontocerebellar hypoplasia do?

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.

What is hypoplasia?

Hypoplasia refers to a lack of cells in an organ or tissue. It can cause a range of different symptoms depending on where in the body it occurs. Many conditions involve hypoplasia.

Is cerebral atrophy serious?

Cerebral atrophy is life threatening, and there is no known cure. Treatment for cerebral atrophy focuses on treating the symptoms and complications of the disease. In cases in which cerebral atrophy is due to an infection, treatment of the infection may stop the symptoms of atrophy from worsening.

What is the treatment of cerebellar atrophy?

There is no cure for hereditary forms of cerebellar degeneration. Treatment is usually supportive and is based on the person’s symptoms. For example, drugs may be prescribed to ease gait abnormalities. Physical therapy can strengthen muscles.

Where do Pontocerebellar fibers originate?

These fibers originate from motor and nonmotor (associative and limbic) areas of the cerebral cortex (1). Almost all of these fibers cross the midline in the basal pons and terminate in the contralateral half of the cerebellum (2).

Is Joubert syndrome fatal?

Some children have mild effects, with only minor symptoms and almost normal development. Others experience significant problems with development, severe impairment in function and organ involvement. Joubert syndrome can be fatal in childhood. Researchers are still studying life expectancy with this rare condition.

What kind of brain disease is olivopontocerebellar atrophy?

Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olives. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia…

Is the basis of the pontocerebellar neurones atrophic?

The basis pontis is atrophic, with loss of pontine neurones and transverse pontocerebellar fibers. In sections stained for myelin, the intact descending corticospinal tracts stand out against the degenerate transverse fibers and the middle cerebellar peduncles.

What kind of brain disease is pontocerebellar hypoplasia?

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons).

Is there a cure for pontocerebellar hypoplasia ( PCH )?

There is no known treatment. Pontocerebellar hypoplasia ( PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons ).