Novel features in a patient homozygous for the L347P mutation in the PINK1 gene

PINK1 (PARK6) and Parkinson's Disease

“…3,5,10,15,21,[26][27][28][29] Possible differences compared with idiopathic PD, not observed in all patients, include a more symmetrical reduction of dopamine reuptake with less evident anteroposterior gradient and a slower progression of dopaminergic neuronal loss. Carriers of two mutations overall presented with a significant loss of presynaptic dopaminergic terminals in the putamen and caudate nucleus compared with normal controls, with normal postsynaptic function.…”

“…3,[9][10][11][12][13][14][15][16] ily history for PD in probands with two PINK1 mutations (n = 40) [2][3][4][5][6][7][8][9][10][11]15,16,[20][21][22]30,32,36,71 and in single heterozygous carriers (n = 56). 3,[9][10][11][12][13][14][15][16] ily history for PD in probands with two PINK1 mutations (n = 40) [2][3][4][5][6][7][8][9][10][11]15,16,[20][21][22]…”

“…5,20,23 Leutenegger and colleagues 20 reported a large inbred family from Sudan with eight patients homozygous for the A217D mutation, presenting with juvenileonset parkinsonism (range 9 to 17 years old) with diurnal fluctuations and sleep benefit, which in some cases resembled levodopa-responsive dystonia. 5,20,23 Leutenegger and colleagues 20 reported a large inbred family from Sudan with eight patients homozygous for the A217D mutation, presenting with juvenileonset parkinsonism (range 9 to 17 years old) with diurnal fluctuations and sleep benefit, which in some cases resembled levodopa-responsive dystonia.…”

“…5,20,23 Leutenegger and colleagues 20 reported a large inbred family from Sudan with eight patients homozygous for the A217D mutation, presenting with juvenileonset parkinsonism (range 9 to 17 years old) with diurnal fluctuations and sleep benefit, which in some cases resembled levodopa-responsive dystonia. 11,21 Psychiatric disturbances, in particular, depression and anxiety, have been reported in about one third of patients with PINK1 mutations regardless of onset age, often appearing early in the course of the disease and even before the whom information was available) with two PINK1 mutations (n = 66) [2][3][4][5][6][7][8][9][10][11]15,16,[20][21][22]30,32,36,71,72 and with one heterozygous mutation (n = 60). 11,21 Psychiatric disturbances, in particular, depression and anxiety, have been reported in about one third of patients with PINK1 mutations regardless of onset age, often appearing early in the course of the disease and even before the whom information was available) with two PINK1 mutations (n = 66) [2][3][4][5][6][7][8][9][10][11]15,16,[20][21][22]…”

Rare Causes of Dystonia Parkinsonism

“…Foot dystonia at onset, hyperreflexia, sleep benefit, urinary urgency, and orthostatic hypotension, cognitive and psychiatric features may also be present [23][24][25][26][27][28][29]; thus very similar to parkin-related parkinsonism. Both parkinand PINK1-associated parkinsonism are characterized by a benign course reflected by a slow annual reduction rate of striatal dopamine uptake that is significantly slower compared with the late-onset PD patient [30].…”