Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

Adult‐Onset Tourettism in SLC20A2‐Associated Primary Familial Brain Calcification

“…Motor or vocal tics have been rarely reported in PFBC. [5][6][7] In contrast to the individuals reported by Mulroy et al, who only had throat-clearing vocalization, 5 and the patient reported by Keogh et al, who was only documented to have a complex motor tic, 6 our patient manifested adult-onset Tourettism with both motor and vocal tics as well as comorbid ADHD. Kummer et al reported an individual with vocal tics and complex movements 7 ; however, given the presence of multiple neuropsychiatric disturbances (impulsivity, punding behavior) and other stereotypies, it is difficult to know whether the patient's movements represented true motor tics or stereotypic behaviors.…”

“…5,7 To our knowledge, our case is the first with documented Tourettism in association with PFBC-SLC20A2. Our case extends on a prior hypothesis that disease-specific alterations in the frontal-basal ganglia-thalamocortical and limbicperiaqueductal gray matter circuitries potentially drive motor and vocal tics, 5,7 respectively, in PFBC, which may occur irrespective of the causative gene. Correspondingly, there is evidence to suggest that the underlying polygenic mechanisms of TSD could result in neuroanatomical and chemical alterations in the basal ganglia-thalamocortical circuitry, which could potentially be further compromised by the effects of intracranial calcifications.…”

“…Notably, earlier reports were limited to PFBC from PDGFB variants 5,6 or brain calcification without a clear genetic cause (ie, "idiopathic"). 5,7 To our knowledge, our case is the first with documented Tourettism in association with PFBC-SLC20A2.…”

“…Notably, earlier reports were limited to PFBC from PDGFB variants 5,6 or brain calcification without a clear genetic cause (ie, "idiopathic"). 5,7 To our knowledge, our case is the first with documented Tourettism in association with PFBC-SLC20A2. Our case extends on a prior hypothesis that disease-specific alterations in the frontal-basal ganglia-thalamocortical and limbicperiaqueductal gray matter circuitries potentially drive motor and vocal tics, 5,7 respectively, in PFBC, which may occur irrespective of the causative gene.…”

Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants

“…ischaemic lesions or intracerebral bleeding; and e) any relevant comorbidities or treatments. The occurrence of stereotypies in the index patient (individual III:1) of family A has previously been described [20].…”