. Author manuscript; available in PMC: 2015 Jan 1.

Published in final edited form as: Future Neurol. 2014 Mar 1;9(2):187–196. doi: 10.2217/fnl.14.6

Table 1.

Purkinje cell pacemaking defects in dominantly inherited ataxic disorders.

Disease	Mutated gene	Functional deficit	Molecular targets
Dravet syndrome	SCN1A	Reduced excitability, reduced firing frequency	Voltage-gated sodium channels (activation) Glutamatergic synaptic transmission (potentiation)
Episodic ataxia type 2	CACNA1A	Irregular spiking, poor encoding of parallel fiber synaptic input	Calcium-activated potassium channels (activation)
Huntington’s disease	HTT	Reduced firing frequency	–
Spinocerebellar ataxia type 1	ATXN1	Reduced firing frequency	–
Spinocerebellar ataxia type 2	ATXN2	Increased excitability, reduced firing frequency and bursting	Calcium-activated potassium channels (activation)
Spinocerebellar ataxia type 3	ATXN3	Increased excitability, reducing firing frequency	Calcium-activated potassium channels (activation)
Spinocerebellar ataxia type 5	SPTNB2	Reduced excitability, reduced firing frequency	Voltage-gated sodium channels (activation) Glutamatergic synaptic transmission (potentiation) FGF14/spectrin system (activation)
Spinocerebellar ataxia type 27	FGF14	Reduced excitability, reduced firing frequency	Voltage-gated sodium channels (activation) Glutamatergic synaptic transmission (potentiation) FGF14/spectrin system (activation)

List of dominantly inherited ataxic disorders where dysfunctional Purkinje neuron pacemaking has been described. The gene that is mutated in the disease, the nature of any deficits in Purkinje neuron pacemaking observed in these models and potential therapeutic targets for clinical intervention are outlined for each condition.