Cerebelloparenchymal disorder 3

Alternate names

Autosomal recessive cerebelloparenchymal disorder type 3; Spinocerebellar ataxia, autosomal recessive 2; SCAR2; Cerebellar hypoplasia, nonprogressive Norman type; CPDIII; CPD3

Definition

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements.

Cause

In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

The mode of inheritance in the few reported families is autosomal recessive.

Signs and symptoms

In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Delayed ability to walk
• Delayed speech and language development(Deficiency of speech development)
• Dysarthria(Difficulty articulating speech)
• Dysmetria(Lack of coordination of movement)
• Gait ataxia(Inability to coordinate movements when walking)
• Gaze-evoked nystagmus
• Global developmental delay
• Intellectual disability(Mental deficiency)

30%-79% of people have these symptoms

• Brisk reflexes
• Cerebellar atrophy(Degeneration of cerebellum)
• Cerebellar vermis atrophy
• Diffuse cerebral atrophy
• Muscle weakness(Muscular weakness)
• Muscular hypotonia(Low or weak muscle tone)
• Oculomotor apraxia
• Pes planus(Flat feet)
• Poor motor coordination
• Progressive psychomotor deterioration

5%-29% of people have these symptoms

• Dilated fourth ventricle
• Enlarged cisterna magna
• Hyporeflexia(Decreased reflex response)
• Impaired visuospatial constructive cognition
• Lactic acidosis(Increased lactate in body)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Ophthalmoplegia(Eye muscle paralysis)
• Peripheral neuropathy
• Pes cavus(High-arched foot)
• Short stature(Decreased body height)
• Spasticity(Involuntary muscle stiffness, contraction, or spasm)
• Tremor

Diagnosis

MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed.

Treatment

Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

NIH genetic and rare disease info

• NIH info on Cerebelloparenchymal disorder 3

Cerebelloparenchymal disorder 3 is a rare disease.

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