Brain dopamine-serotonin vesicular transport disease

Definition

A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Epidemiology

The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date.

Cause

• Brain dopamine-serotonin vesicular transport disease is caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles.

Gene mutations

Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner, and genetic counseling is recommended.

Signs and symptoms

• Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation.
• Motor development is delayed and later manifestations include severe parkinsonism, dystonia, ataxia, oculogyric crises, sleep and mood disturbances, temperature instability, excessive diaphoresis, ptosis and postural hypotension.
• Symptoms show no diurnal variation, do not improve with intake of vitamin B12 or folinic acid and worsened after administration of L-dopa.

Clinical presentation

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

• Abnormal foot morphology(Abnormal feet structure)
• Abnormality of eye movement(Abnormal eye movement)
• Abnormality of the vasculature(Abnormality of blood vessels)
• Cognitive impairment(Abnormality of cognition)
• Dysarthria(Difficulty articulating speech)
• Dysdiadochokinesis(Difficulty performing quick and alternating movements)
• Fatigue(Tired)
• Generalized hypotonia(Decreased muscle tone)
• Global developmental delay
• Hyperhidrosis(Excessive sweating)
• Hypomimic face(Dull facial expression)
• Inappropriate crying
• Limb dystonia
• Muscular hypotonia of the trunk(Low muscle tone in trunk)
• Nasal speech(Nasal voice)
• Oculogyric crisis
• Orofacial dyskinesia
• Parkinsonism
• Poor head control
• Postnatal microcephaly
• Ptosis(Drooping upper eyelid)
• Shuffling gait(Shuffled walk)
• Sleep disturbance(Difficulty sleeping)
• Spastic tetraparesis
• Stridor
• Tremor

NIH genetic and rare disease info

• NIH info on Brain dopamine-serotonin vesicular transport disease

Brain dopamine-serotonin vesicular transport disease is a rare disease.

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