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Cardiac bioenergetics in Friedreich's ataxia.

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LETTERS
Cardiac Bioenergetics in Friedreich’s Ataxia
Reply
Raffaele Lodi, MD,1 Bheeshma Rajagopalan, MD,2
Anthony H. V. Schapira, MD,3,4 and
J. Mark Cooper, PhD3
Nana Bit-Avragim, MD, Michael Bunse, PhD,
and Karl Josef Osterziel, MD
We read with interest the article by Bunse and colleagues1
confirming our previous work that demonstrated an impairment of cardiac bioenergetics in 18 patients with Friedreich’s
ataxia,2 a nuclear encoded mitochondrial disorder due to a
GAA trinucleotide repeat expansion in the frataxin gene.3
The authors reported a negative correlation between septal
wall thickness (IVS) and both cardiac phosphocreatine to
adenosine triphosphate (PCr/ATP) and inorganic phosphate
to PCr ratios (Pi/PCr). Surprisingly, these correlations were
obtained including both Friedreich’s ataxia patients and
healthy subjects. However, inspection of the distribution of
healthy volunteers’ echocardiographic and phosphorus MR
spectroscopy (31P-MRS) measurements reported in Figure 2,
shows no correlation between IVS and Pi/PCr or PCr/ATP.
Nevertheless, the inclusion of healthy subjects with low IVS
may have contributed to the significance of the reported correlations.
It would be more relevant to know if, in the patient
group, there was a correlation between echocardiographic
and 31P-MRS variables and their relationship with the expansion of the GAA repeat. In our previous study,2 we did
not find any correlation between cardiac PCr/ATP and echocardiographic variables nor GAA repeats numbers in Friedreich’s ataxia patients. Unfortunately, because of the different
31
P-MRS acquisition protocol we could not asses the cardiac
content of inorganic phosphate. In the study by Bunse and
colleagues, cardiac Pi/ATP was elegantly measured, and a
clear demonstration in Friedreich’s ataxia patients of a relationship between cardiac bioenergetics and echocardiographic
variables and/or underlying genetic abnormality would add
important clues for the understanding of the development of
cardiomyopathy in this condition.
Lodi and colleagues raised important questions about the
pathogenesis of the cardiac hypertrophy in patients with
Friedreich’s ataxia (FA). They reported earlier that patients
with FA and septal wall thickness equal or greater than 11
mm had a decreased phosphocreatine (PCr) to ATP ratio.1
Our findings extended this observation to patients with myocardial hypertrophy (mean septal wall thickness of 13 ⫾ 2
mm).2
As we already have discussed in our article,2 one limitation
is the low number of patients and controls examined. However, we would not, as Lodi and colleagues suggested, rely on
assumptions based on inspection of data points. The close
correlation of several indicators of mitochondrial energy status to wall thickness in the combined group of controls and
patients with FA is an important fact supporting the hypothesis that cardiac energy metabolism is a major factor determining cardiac wall thickness.
In a second analysis, we excluded the controls and related
the energy status to the degree of myocardial hypertrophy in
From the 1Dipartimento di Medicina Clinica e Biotecnologia
Applicata, Universita di Bologna, Bologna, Italy;2 MRC
Biochemical and Clinical Magnetic Resonance Unit,
Department of Biochemistry, University of Oxford and Oxford
Radcliffe Hospital, Oxford; 3University Department of Clinical
Neurosciences, Royal Free and University College Medical
School; and 4Institute of Neurology, University College,
London, United Kingdom
References
1. Bunse M, Bit-Avragim N, Riefflin A, et al. Cardiac energetics
correlates to myocardial hypertrophy in Friedreich’s ataxia. Ann
Neurol 2003;53:121–123.
2. Lodi R, Rajagopalan B, Blamire AM, et al. Cardiac energetics are
abnormal in Friedreich ataxia patients in the absence of cardiac
dysfunction and hypertrophy: an in vivo 31P magnetic resonance
spectroscopy study. Cardiovasc Res 2001;52:111–119.
3. Campuzano V, Montermini L, Molto MD, et al. Friedreich’s
ataxia: autosomal recessive disease caused by an intronic GAA
triplet repeat expansion. Science 1996;271:1423–1427.
DOI: 10.1002/ana.10744
552
Fig. (A) Correlation between PCr/ATP ratio and interventricular septal wall thickness (IVS) in patients with Friedreich’s
ataxia. (B) Correlation between PCr/ATP ratio and the entire
myocardial wall thickness (IVS ⫹ posterior wall thickness
[PWT]) in patients with Friedreich’s ataxia.
© 2003 American Neurological Association
Published by Wiley-Liss, Inc., through Wiley Subscription Services
only the FA patients. We found a significant correlation between PCr/ATP and interventricular septal wall thickness
(r ⫽ 0.7, p ⬍ 0.01) as well as the entire left ventricular wall
thickness (interventricular septal wall thickness and posterior
wall thickness; r ⫽ 0.8, p ⬍ 0.005) in this group (Fig, A, B).
Therefore, these results underline even more convincingly a
direct relationship between cardiac energy metabolism and
myocardial hypertrophy in patients with FA.
As Lodi and colleagues already have reported, we also
did not find a correlation between GAA repeat length and
myocardial energy status. The GAA repeat length on the
smaller frataxin allele determines the amount of frataxin
protein synthesized.3,4 The extent of myocardial energy deficiency may depend not only on the rate of synthesis of
frataxin protein alone. In addition, different intracellular
adaptations to lower mitochondrial levels of frataxin may
modulate the energy supply, thus obstructing a possible relation of GAA repeat length to the degree of energy deficiency. Our main interest was to relate the degree of energy
deficiency to the cardiac pathology, namely, the development of myocardial hypertrophy. Because of the limitations
of clinical studies, we did not aim to study the pathophysiological consequences of reduced frataxin levels in humans.
We are convinced that these examinations are very important and should be undertaken in model systems like in
animal models or isolated myocytes.
References
1. Lodi R, Rajagopalan B, Blamire A, et al. Cardiac energetics are
abnormal in Friedreich ataxia patients in the absence of cardiac
dysfunction and hypertrophy: an in vivo 31P magnetic resonance
spectroscopy study. Cardiovasc Res 2001;52:111–119.
2. Bunse M, Bit-Avragim N, Riefflin A, et al. Cardiac energetics
correlates to myocardial hypertrophy in Friedreich’s ataxia. Ann
Neurol 2003;53:121–123.
3. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 1996;
335:1169 –1175.
4. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced
in Friedreich’s ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771–1780.
DOI: 10.1002/ana.10745
Absence of Association between Codon 129/219
Polymorphisms of the Prion Protein Gene and
Alzheimer’s Disease in Japan
Takuya Ohkubo, MD,1,2 Yuji Sakasegawa, MSc,1
Takashi Asada, MD,3 Toru Kinoshita, MD,4
Yuichi Goto, MD, PhD,4 Hideo Kimura, PhD,5
Hidehiro Mizusawa, MD, PhD,2
Naomi S. Hachiya, PhD,1,6
and Kiyotoshi Kaneko, MD, PhD1,6
Alzheimer’s disease (AD) might share a common pathogenic
mechanism, in terms of conformation disorders, with prion
disease such as Creutzfeldt–Jakob disease (CJD), which is
characterized by the accumulation of abnormally folded
prion protein in the brain.1 Although it has been reported
that codon 129 polymorphism (either methionine [M] or valine [V]) of the prion protein (PRNP) gene might be a risk
factor for Alzheimer’s disease (AD) in some European populations (French and Dutch),2,3 it was not confirmed by two
studies in Italian and Spanish populations.4,5 With this background, we examined whether codon 129 polymorphism of
the PRNP gene confers susceptibility to AD in nonwhite
population. Furthermore, we also examined another polymorphism (either glutamate [E] or lysine [K]) at codon 219
of the PRNP gene, which is confined to Japanese population
so far and known to render humans resistant to sporadic
CJD.6
Five hundred forty-eight Japanese patients with probable
AD (191 men and 357 women; mean age of onset, 70.4 ⫾
9.0 years old), whose diagnoses were determined by meeting
the National Institute of Neurological and Communicative
Disorders and Stroke and the Alzheimer’s Disease and Related Dementias Association criteria, and 466 healthy controls (206 men and 260 women; mean age, 67.7 ⫾10.0 years
old) were analyzed. The 1.02kb region harboring the entire
open reading frame of the PRNP gene was sequenced in all
subjects, but no novel polymorphism was detected other
than two known polymorphisms at codon 129 and 219.6
The expected difference in the apolipoprotein E (APOE) ε4
allele frequency, which is known as a major risk factor in
cognitive dementia,7 was observed between AD patients and
control subjects (odds ratio, 2.93; 95% confidence interval,
2.23–3.85), suggesting that there was no apparent population bias in our study.
Genotypic analysis of codon 129 of the PRNP gene (Table) showed no association with Japanese AD (n ⫽ 548/
466 [AD/control]; p ⫽ 0.90); early-onset AD (EOAD; age
of onset, ⬍65 years; n ⫽ 136/156; p ⫽ 0.54); or late-onset
AD (LOAD; age of onset, ⱖ 65 years; n ⫽ 412/310; p ⫽
0.77), regardless of their APOE ε4 statuses (data not
shown). Next, we also studied another PRNP gene polymorphism at codon 219 (see Table), which is confined to a
Japanese population so far examined and renders resistance
to sporadic CJD.6 Again, no association was shown between codon 219 polymorphism and Japanese AD (n ⫽
548/466; p ⫽ 0.88); EOAD (n ⫽ 136/156; p ⫽ 0.54); or
LOAD (n ⫽ 412/310; p ⫽ 0.65), regardless of their APOE
ε4 statuses (data not shown). Finally, we performed haplotype analysis that would increase informativeness as a genetic marker,8 because the codon 129 and 219 polymorphisms are not sufficiently informative. As a result, it
showed no association between heterozygosity of codon
129/219 of the PRNP gene and Japanese AD (total AD;
p ⫽ 0.99, EOAD; p ⫽ 0.84, LOAD; p ⫽ 0.94).
Combarros and colleagues4 reported that the discrepancy
between their negative study in a Spanish population and
two other positive studies in Europeans2,3 might reside in the
different age distribution. Apparently, this is not the case in
our study because the statistical analysis showed no difference of the age distribution. Casadei and colleagues5 also reported the similar negative result in an Italian population,
but they also suggested EOAD patients have a tendency of
carrying at least one V allele at codon 129. In fact, prevalence of AD among Japanese is comparable with that among
whites,9 which might not support the association between
valine at codon 129 and AD.
Annals of Neurology
Vol 54
No 4
October 2003
553
Table. Allele and Genotype Frequencies of Codon 129 and 219 Polymorphisms of the PRNP Gene in Japanese AD Patients and
Control Subject
Genotype, n (%)
Subject Group
Subjects with AD
⬍65 yr
ⱖ65 yr
Total
Control subjects
⬍65 yr
ⱖ65 yr
Total
Allele Frequency
n
MM
MV
VV
M
V
136
412
548
130 (95.6)
381 (92.5)
511 (93.2)
6 (4.4)
31 (7.5)
37 (6.8)
0 (0.0)
0 (0.0)
0 (0.0)
0.978
0.962
0.966
0.022
0.038
0.034
156
310
466
147 (94.2)
289 (93.2)
436 (93.6)
9 (5.8)
21 (6.8)
30 (6.4)
0 (0.0)
0 (0.0)
0 (0.0)
0.971
0.966
0.968
0.029
0.034
0.032
Genotype, n (%)
Subject Group
Subjects with AD
⬍65 yr
ⱖ65 yr
Total
Control subjects
⬍65 yr
ⱖ65 yr
Total
Allele Frequency
n
EE
EK
KK
E
K
136
412
548
108 (79.4)
364 (88.3)
472 (86.1)
27 (19.9)
48 (11.7)
75 (13.7)
1 (0.7)
0 (0.0)
1 (0.2)
0.893
0.938
0.930
0.107
0.062
0.070
156
310
466
129 (82.7)
270 (87.1)
399 (85.6)
27 (17.3)
40 (12.9)
67 (14.4)
0 (0.0)
0 (0.0)
0 (0.0)
0.913
0.935
0.928
0.087
0.065
0.072
AD ⫽ Alzheimer’s disease; EOAD ⫽ early-onset AD; LOAD ⫽ late-onset AD.
Our data are the first genetic association study of the
PRNP gene with AD in nonwhite population. Of note, we
examined a unique polymorphism at codon 219 in more
than 1,000 Japanese patients with AD and age-matched controls. In addition, the haplotype analysis with codon 129/
219 polymorphisms also was performed. Although our data
demonstrated no association at present, further studies in different ethnic groups with more informative genetic markers,
if any, have yet to be done to conclude such association between AD and the PRNP gene polymorphisms.
We thank N. Minami for providing the DNA samples of patients.
This work was supported by a grant from the Program for Promotion of Fundamental Studies in Health Sciences and the Organization for Pharmaceutical Safety and Research, and Core Research for
Evolutional Science and Technology (CREST) of Japan Science and
Technology Corporation.
1
Department of Cortical Function Disorders, National Institute
of Neuroscience (NIN), National Center of Neurology and
Psychiatry (NCNP), Tokyo; 2Department of Neurology and
Neurological Science, Graduate School of Medicine, Tokyo
Medical and Dental University; 3Department of
Neuropsychiatry, Institute of Clinical Medicine, University of
Tsukuba; 4Department of Mental Retardation and Birth Defect
Research; 5 Department of Molecular Genetics, NIN, NCNP,
Tokyo; and 6Core Research for Evolutional Science and
Technology (CREST), Japan Science and Technology
Corporation, Japan
554
Annals of Neurology
Vol 54
No 4
October 2003
References
1. Prusiner SB. Prions. Proc Natl Acad Sci USA 1998;95:
13363–13383.
2. Berr C, Richard F, Dufouil C, et al. Polymorphism of the prion
protein is associated with cognitive impairment in the elderly:
the EVA study. Neurology 1998;51:734 –737.
3. Dermaut B, Croes EA, Rademakers R, et al. PRNP Val129 homozygosity increases risk for early-onset Alzheimer’s disease. Ann
Neurol 2003;53:409 – 412.
4. Combarros O, Sanchez-Guerra M, Llorca J, et al. Polymorphism
at codon 129 of the prion protein gene is not associated with
sporadic AD. Neurology 2000;55:593–595.
5. Casadei VM, Ferri C, Calabrese E, et al. Prion protein gene
polymorphism and Alzheimer’s disease: one modulatory trait of
cognitive decline? J Neurol Neurosurg Psychiatry 2001;71:
279 –280.
6. Shibuya S, Higuchi J, Shin RW, et al. Codon 219 Lys allele of
PRNP is not found in sporadic Creutzfeldt-Jakob disease. Ann
Neurol 1998;43:826 – 828.
7. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of
apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer’s disease. Neurology 1993;43:1467–1472.
8. Johnson GC, Esposito L, Barratt BJ, et al. Haplotype tagging for
the identification of common disease genes. Nat Genet 2001;29:
233–237.
9. Suh GH, Shah A. A review of the epidemiological transition in
dementia—cross-national comparisons of the indices related to
Alzheimer’s disease and vascular dementia. Acta Psychiatr Scand
2001;104:4 –11.
DOI: 10.1002/ana. 10748
Reply
Bart Dermaut, MD, PhD,1 Esther Croes, MD, PhD,2
Cornelia van Duijn, PhD,1,2
and Christine Van Broeckhoven, PhD, DSc1
Given the extensive heterogeneity of prion protein gene
(PRNP) polymorphism frequencies across ethnic groups,1 the
letter by Ohkubo and colleagues investigating PRNP as a
risk gene for Alzheimer’s disease (AD) in the Japanese population is a welcome follow-up to similar studies in Dutch2,3
and other white populations.4 – 6 Although their negative association data clearly do not support a role for PRNP as an
AD susceptibility gene in the Japanese population, note that
previous positive association studies in white populations
have mainly implicated homozygosity of PRNP V129 as the
risk-determining genotype in cognitive decline3,5 and AD.2
However, because the PRNP V129 allele is rare in the Japanese population (3% vs 37% in the Dutch population2),
even the present large case–control data set fails to detect
V129 homozygote frequencies (0% vs 10% in the Dutch
population2). In this context, the negative result in the Japanese population is not surprising and would be in agreement with the allele-specific effect of PRNP V129 on AD
and cognitive decline. We therefore currently do not support
the conclusion of Ohkubo and colleagues that their data together with similar AD prevalences among Japanese and
Caucasians would argue against a true association between
V129 and AD/cognitive decline in white populations. However, only further independent replication studies across ethnic groups will solve the controversial issue of a genetic role
of PRNP in AD and cognitive decline in the elderly.
1
Department of Molecular Genetics, Flanders Interuniversity
Institute for Biotechnology, University of Antwerp, Antwerpen,
Belgium; and 2Genetic Epidemiology Group, Department of
Epidemiology and Biostatistics, Erasmus Medical Center,
Rotterdam, The Netherlands
References
1. Soldevila M, Calafell F, Andres AM, et al. Prion susceptibility
and protective alleles exhibit marked geographic differences.
Hum Mutat 2003;22:104 –105.
2. Dermaut B, Croes EA, Rademakers R, et al. PRNP Val129 homozygosity increases risk for early-onset Alzheimer’s disease. Ann
Neurol 2003;53:409 – 412.
3. Croes EA, Dermaut B, Houwing-Duistermaat JJ, et al. Early
cognitive decline in the general population is associated with the
codon 129 polymorphism of the prion protein gene. Ann Neurol
2003;54:275–276.
4. Combarros O, Sanchez-Guerra M, Llorca J, et al. Polymorphism
at codon 129 of the prion protein gene is not associated with
sporadic AD. Neurology 2000;55:593–595.
5. Berr C, Richard F, Dufouil C, et al. Polymorphism of the prion
protein is associated with cognitive impairment in the elderly:
the EVA study. Neurology 1998;51:734 –737.
6. Casadei VM, Ferri C, Calabrese E, et al. Prion protein gene
polymorphism and Alzheimer’s disease: one modulatory trait of
cognitive decline? J Neurol Neurosurg Psychiatry 2001;71:
279 –280.
DOI: 10.1002/ana.10749
Is Decoupling of Autonomic and Cognitive
Emotional Reactions a Manifestation of Cerebellar
Stroke or Hydrocephalus?
Francisco de Assis Aquino Gondim, MD, MSc, PhD1,
and Gisele Ramos de Oliveira, MD2
We read with interest the paper recently published by Annoni and colleagues1 which suggested that decoupling of autonomic and cognitive emotional emotional reactions can result from a cerebellar stroke involving the territories of both
anterior and posterior cerebellar arteries.
The authors concluded that the cerebellar involvement
lead to the emotional flattening and increased risk taking.1
However, they did not raise the possibility that such
cognitive-affective syndrome could have been caused by the
development of acute obstructive hydrocephalus, which lead
to Parinaud’s syndrome and supratentorial ventricular dilatation and was subsequently treated by partial cerebellectomy.
Cognitive changes induced by cerebellar involvement,
leading to the so-called cerebellar cognitive-affective syndrome, have been reported after strokes, tumors and cerebellitis.2,3 It is well-known that transient mutism and global
impairment in the initiation of voluntary movements can result from the excision of cerebellar tumors in children.4 On
the other hand, acute hydrocephalus is also commonly associated with severe neurobehavioral deficits, even after being
controlled by procedures such as ventriculostomy. It is not
uncommon to observe akinesia and emotional blunting after
hydrocephalus and even akinetic mutism has been reported
as sequelae of acute hydrocephalus.5 To our knowledge, no
studies have tested skin conductance responses with a similar
approach used by Annoni and colleagues1 in patients who
survived acute hydrocephalus. Therefore, one should be cautious about the interpretation of the neuroanatomic localization of the findings presented by Annoni and colleagues,1
since such picture of decoupling of autonomic and cognitive
emotional reactions could be secondary to involvement of
other ascending/descending pathways, not necessarily directly
linked to cerebellar function. Indeed, even in the original
paper of Schmahmann and colleagues,3 no clear discussion
about the possible relationship between hydrocephalus
and/or mass effect over the brainstem and the cognitive findings was made, despite the fact that the neurobehavioral
symptoms were more pronounced in patients with large, bilateral or pancerebellar disorders. Thus, further studies in patients with more restricted cerebellar lesions are necessary in
order to establish to what extent these cognitive changes are
part of a “pure” cerebellar syndrome rather than involvement
of multiple ascending and descending pathways.
1
Department of Neurology, Weill Medical College of Cornell
University, New York, NY; 2Department of Neurology, Albert
Einstein School of Medicine, Bronx, NY
References
1. Annoni JM, Ptak R, Caldara-Schnetzer AS, Khateb A, Pollermann BZ. Decoupling of autonomic and cognitive emotional reactions after cerebellar stroke. Ann Neurol 2003; 53: 654-658.
2. Gutzmann H, Kuhl K. Emotion control and cerebellar atrophy
in senile dementia. Arch Gerontol Geriatr 1987; 6: 61-71.
Annals of Neurology
Vol 54
No 4
October 2003
555
3. Schmahmann J, Sherman J. The cerebellar cognitive affective
syndrome. Brain 1998; 121: 561-579.
4. Pollack IF. Posterior fossa syndrome. Int Rev Neurobiol 1997;
41: 411-32.
5. Aidi S, Elalaoui-Faris M, Benabdeljlil M, Benomar A, Chaoui
M, Chkili T. Akinetic mutism and progressive supranuclear
palsy-like syndrome after the shunt of an obstructive hydrocephalus. Successful treatment with bromocriptine: 2 cases. Rev Neurol (Paris) 2000; 156: 380-3.
DOI: 10.1002/ana.10145
Reply
Jean-Marie Annoni, MD, and Asaid Khateb, PhD
We read with great interest the letter written by Gondin and
Oliveira suggesting that the emotional flattening, as observed
in patient MF,1 might have been caused by a damage (secondary to the transient hydrocephalus) to ascending/descending pathways rather than by the cerebellar infarct. It is noteworthy that dysexecutive symptoms, apathy and abulia are
not rare after acute or chronic hydrocephalus in adults2 and
children.3 Akinetic mutism and progressive supranuclear
palsy-like syndrome, suggestive of midbrain damage, can also
be induced by hydrocephalus.4 The hypothesis that MF’s
symptomatology might have resulted from the hydrocephalus
had actually been addressed during the preparation of the
report but has been abandoned for the following reasons:
i) As already reported, the hydrocephalus was transient:
The Glasgow Coma scale did not decrease below 14,
the neurological signs (i.e. the Parinaud’s syndrome
and left hemiataxia) disappeared within 48 hours postoperatively. In contrast, the patients presented by Aidi
et al.4 showed post-operatively grasp or nasopalpebral
reflexes, prolonged akinetic mutism (⬎1 month), diffuse pyramidal signs and oculomotor impairment.
ii) Hypothalamic dysfunction, attested by alterations in
adrenocorticotrophic hormone (ACTH) and thyroidstimulating hormone (TSH) levels, may be caused by
severe hydrocephalus. Post-operative normal levels of
ACTH and TSH in MF confirmed the functional integrity of the hypothalamus.
iii) In contrast with previous observations,4 dopaminergic
agonists (Pergolide, up to 6 mg/day) administered
during 4 months did not improve the patient’s condition (not reported due to absence of effects) excluding thus dopaminergic transmission failure. Furthermore, a ventromedial frontal dysfunction, that can
expected after long-lasting hydrocephalus, would have
556
Annals of Neurology
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October 2003
produced a different pattern of skin conductance responses, with decreased anticipatory responses.1,5
iv) Supra-tentorial ischemic lesions caused by acute hydrocephalus imply the territory of the posterior cerebral arteries. Visual, spatial or memory deficits that
could be expected after such dysfunction were not observed in MF and structural MRI excluded such possibility.1
Finally, concerning the patients described by Schmahmann and Sherman,6 they all had cerebellar diseases without
hydrocephalus. However, some had degenerative processes
and therefore participation of ascending/descending pathways can not be excluded. Clinically, lesions involving the
posterior cerebellar lobe and the vermis induced major behavioral and affective changes, whereas those affecting the
anterior lobe induced minor troubles.5 This point is particularly interesting in view of studies suggesting that pure
and/or circumscribed cerebellar strokes provoke little cognitive deficits. Actually, it can be hypothesized that the cerebellar cognitive-affective syndrome may be site-dependent
but also that other factors such as damage to ascending/descending pathways may contribute to its appearance. However, in our case, the different up-cited reasons, and the fact
that cognitive impairments were relatively minor, lead us to
directly link emotional flattening and cerebellar lesion.
Department of Neurology, Geneva University Hospital,
Geneva, Switzerland
References
1. Annoni JM, Ptak R, Caldara-Schnetzer AS, et al. Decoupling of
autonomic and cognitive emotional reactions after cerebellar
stroke. Ann Neurol 2003;53:654 – 658.
2. De Mol J. Neuropsychological symptomatology in normal pressure hydrocephalus. Schweiz Arch Neurol Psychiatr 1986;137:
33– 45.
3. Torkelson RD, Leibrock LG, Gustavson JL, Sundell RR. Neurological and neuropsychological effects of cerebral spinal fluid
shunting in children with assumed arrested (“normal pressure”)
hydrocephalus. J Neurol Neurosurg Psychiatry 1985;48:
799 – 806.
4. Aidi S, Elalaoui-Faris M, Benabdeljlil M, et al. Akinetic mutism
and progressive supranuclear palsy-like syndrome after the shunt
of an obstructive hydrocephalus. Successful treatment with
bromocriptine: 2 cases. Rev Neurol (Paris) 2000;156:380 –383.
5. Bechara A, Damasio H, Damasio A. Different contributions of
the human amygdala and ventromedial prefrontal cortex to
decision-making. J Neurosci 1999;19:5473–5481.
6. Schmahmann J, Sherman J. The cerebellar cognitive affective
syndrome. Brain 1998;121:561–579.
DOI:
10.1002/ana.10772
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