Pallidopyramidal disease: A misnomer?

Abstract

The combination of recessive early-onset parkinsonism and pyramidal tract signs caused by pallidopyramidal degeneration is known as pallidopyramidal disease or syndrome (PPD/S). We investigated whether patients diagnosed as Davison's PPD/S showed any definite proof of pyramidal and pallidal involvement, without findings suggestive of other nosological entities. Since Davison's original description, 15 other PPD/S cases have been reported, yet all lack proof of pyramidal or pallidal degeneration. Because of the dopa-responsiveness in all patients subsequent to Davison's report, we argue that these patients probably suffered from early-onset nigral parkinsonism or dopa-responsive dsystonia, rather than pallidal parkinsonism; in such cases, the presumed pyramidal Babinski could be a pseudobabinski ("striatal toe"). Secondary pallidopyramidal syndromes do occur, for example, in multiple system atrophy or Wilson's disease, but in these patients additional findings indicate diseases other than Davison's PPD/S. We conclude that the existence of PPD/S as a distinct clinico-pathological nosological entity, as proposed by Davison, is doubtful. In cases reported as Davison's PPD/S, the description "pallidopyramidal" seems to be a misnomer.

Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

“…In 1954, Davison drew attention to the distinct syndromic combination of juvenile or young‐onset parkinsonism and pyramidal disturbance . Since 2006, a number of recessively inherited causes of PPS have been identified, all of which also can manifest dystonia of varying severity, although the usefulness of the term PPS has been questioned …”

“…37 Since 2006, a number of recessively inherited causes of PPS have been identified, all of which also can manifest dystonia of varying severity, 38 although the usefulness of the term PPS has been questioned. 39 One of the most common questions that arises in patients with early onset dystonia combined with spasticity is whether it is due to cerebral palsy. Cerebral palsy itself is a syndrome rather than a disease, implying a static encephalopathy caused by an acquired perinatal or early infantile, monophasic cerebral insult.…”

F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease

“…14 Since not all reported cases with the PPD phenotype exhibited pyramidal or pallidal lesions, the designation of PPD has been challenged. 15 Furthermore, functional imaging, such as positron emission tomography and single photon emission computed tomography, showed decreased metabolism in the striatum rather than pallidum. 13,16 Other disorders with the PPD phenotype include the Kufor-Rakeb syndrome (caused by loss-of-function mutation in the ATP13A2 gene) and other autosomal recessive forms of juvenile parkinsonism (caused, for example, by mutations in the parkin, PINK1, DJ-1, and PLA2G6 genes).…”

“…13,16 Other disorders with the PPD phenotype include the Kufor-Rakeb syndrome (caused by loss-of-function mutation in the ATP13A2 gene) and other autosomal recessive forms of juvenile parkinsonism (caused, for example, by mutations in the parkin, PINK1, DJ-1, and PLA2G6 genes). 15,[17][18][19] Although PPD has similarities to the Kufor-Rakeb syndrome (PARK9, OMIM 606693), the latter tends to manifest with coexistent dementia and upgaze oculomotor palsy. 17 The phenotypes associated with parkin (PARK2, OMIM 600116), PINK1 (PARK6, OMIM 605909), and DJ-1 (PARK7, OMIM 606324) overlap with early-onset PD, and pyramidal tract signs associated with these gene mutations are mild or not evident.…”

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

“…After confirmation of Hallervorden and Spatz' s involvement in the euthanasia program of the Nazi regime in Germany, and the recent neuroimaging and genetic discoveries, this syndrome was renamed NBIA 1,2 . In 2010, Horstink et al suggested that PPD was a misnomer and conclude that the existence of PPD as a distinct nosological entity is doubtful 7 . In 2013, Kara et al argued that the use of the term NBIA is not ideal and suggested the term pallidopyramidal syndromes (PPS), however NBIA is the most known worldwide term 2 .…”