With the introduction of next generation sequencing a diagnosis was achieved in some of these patients as follows: 2 additional patients with SPG7, 2 patients with Niemann-Pick Type C [12], one patient with episodic ataxia type 2 [13], one patient with ataxia telangiectasia [14], one patient with ARSACS [15], 2 patients with SCA14 [16], one patient with SCA28 [17] and one patient with SCA35 [18]. The gene discussed is SPG7; the disease is episodic ataxia type 2.