First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis

Abstract Introduction/aims Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in the course of the disease. Pompe disease is an autosomal recessive disease leading to decreased levels of lysosomal enzyme acid α-glucosidase and proximal muscle weakness. We report the clinical features and diagnostic workup in the rare case of a patient with ATTR amyloidosis and late-onset Pompe disease, both genetically confirmed. Methods We performed a detailed clinical assessment, exome sequencing, and biochemical measurements. Results The patient presented with a distal, painful hypaesthesia of both legs, a cardiomyopathy, and a muscle weakness in the form of a girdle-type pattern of the arms and legs at the beginning and a spreading to distal muscle groups in the course of disease. Discussion This study highlights the importance of searching for co-occurrence of rare monogenetic neuromuscular diseases, especially in cases in which all clinical features can be readily explained by a single gene defect.

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X-linked myopathy with excessive autophagy: first report of an Israeli family presenting with late onset lower limb girdle weakness

Neuromuscular Disorders ◽

10.1016/j.nmd.2021.06.013 ◽

2021 ◽

Author(s):

Tayir Alon ◽

Menachem Sadeh ◽

Dorit Lev ◽

Ron Dabby

Keyword(s):

Lower Limb ◽

Late Onset ◽

First Report

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Alopecia Universalis Causes Serious Personality Derangements: First Report of Negative Impact of a Medical Condition on Personality (279 Patients)

European Psychiatry ◽

10.1016/s0924-9338(11)72830-9 ◽

2011 ◽

Vol 26 (S2) ◽

pp. 1125-1125

Author(s):

K.K. Pirkalani ◽

Z. Talaee Rad

Keyword(s):

Personality Disorders ◽

Negative Impact ◽

Late Onset ◽

Medical Condition ◽

Type I Diabetes ◽

Type I ◽

Psychiatric Interview ◽

Alopecia Universalis ◽

First Report ◽

Thought Disorders

ObjectiveTo evaluate the reason of major behavioral problems in alopecia universalis patients, we tried to examine by way of MCMI- III whether these signs are transient, developmental or ingrained.Methods279 patients with alopecia universalis were studied before and 3 months after treatment with MCMI-III and scheduled psychiatric interview. They were stratified in regard to sex, age, socioeconomic class, age of onset of alopecia (before or after 18yrs) and response. The results were compared with 3000 normal examinees.ResultsThere was significant preponderance of personality disorders among patients with early onset (p < 0.003) but not late onset (p = 0.1) alopecia including schizotypal, schizoid, self defeating, borderline and avoidant personalities compared to general population. This was not affected by treatment. (p < 0.004) All patients showed higher scales in axis II disorders including depression, anxiety, drug abuse, alcohol abuse and major thought disorders. (Overall p < 0.02) These were ameliorated with treatment of alopecia. These data were confirmed by scheduled interviews.ConclusionThis is the first report of severe personality disorder in the context of a medical (dermatological) condition. Childhood onset chronic illnesses can cause serious personality disorders that are stronger predictors than genetics or learned behavior encompassed in previous theories on personality. Alopecia universalis has a more sustained effect due to jeopardizing the development of self image. We recommend that many diseases with their onset during childhood, including type I diabetes, epilepsy, childhood cancers … must not only be treated for concomitant anxiety and depression but for abnormal personality development.

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High-resolution ultrasound of peripheral nerves in late-onset hereditary transthyretin amyloidosis with polyneuropathy: similarities and differences with CIDP

Neurological Sciences ◽

10.1007/s10072-021-05749-3 ◽

2021 ◽

Author(s):

Luca Leonardi ◽

Giuseppe Di Pietro ◽

Antonella Di Pasquale ◽

Fiammetta Vanoli ◽

Laura Fionda ◽

...

Keyword(s):

High Resolution ◽

Peripheral Nerves ◽

Late Onset ◽

Transthyretin Amyloidosis ◽

Similarities And Differences ◽

Hereditary Transthyretin Amyloidosis

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Clinicopathological and biochemical findings of late-onset hereditary transthyretin amyloidosis 16 years after liver transplantation: an autopsy case study

Amyloid ◽

10.1080/13506129.2017.1295941 ◽

2017 ◽

Vol 24 (sup1) ◽

pp. 122-122

Author(s):

Mayumi Mizukami ◽

Mitsuharu Ueda ◽

Masayoshi Tasaki ◽

Yohei Misumi ◽

Teruaki Masuda ◽

...

Keyword(s):

Liver Transplantation ◽

Late Onset ◽

Autopsy Case ◽

Transthyretin Amyloidosis ◽

Hereditary Transthyretin Amyloidosis

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INFECTIOUS MILK? GROUP B STREPTOCOCCUS (GBS) LATE-ONSET SEPSIS (LOS) AND MENINGITIS IN PREMATURE TWINS ASSOCIATED WITH BREASTFEEDING: FIRST REPORT FROM CENTRAL AMERICA

10.26226/morressier.58fa1767d462b80290b516b7 ◽

2017 ◽

Author(s):

Rebeca Esquivel-Zuñiga

Keyword(s):

Central America ◽

Late Onset ◽

Group B Streptococcus ◽

First Report ◽

Late Onset Sepsis ◽

Group B

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Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

Journal of Clinical Medicine ◽

10.3390/jcm9072234 ◽

2020 ◽

Vol 9 (7) ◽

pp. 2234 ◽

Cited By ~ 1

Author(s):

Michaela Auer-Grumbach ◽

Rene Rettl ◽

Klemens Ablasser ◽

Hermine Agis ◽

Christian Beetz ◽

...

Keyword(s):

Heart Failure ◽

Hot Spots ◽

Amyloid Fibrils ◽

Late Onset ◽

Missense Mutations ◽

Transthyretin Amyloidosis ◽

Variants Of Unknown Significance ◽

New Therapeutic Approaches ◽

Organ Manifestations ◽

Austrian Population

Background: Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominantly inherited disorder caused by an accumulation of amyloid fibrils in tissues due to mutations in the transthyretin (TTR) gene. The prevalence of hATTR is still unclear and likely underestimated in many countries. In order to apply new therapies in a targeted manner, early diagnosis and knowledge of phenotype-genotype correlations are mandatory. This study aimed to assess the prevalence and phenotypic spectrum of hATTR in Austria. Methods: Within the period of 2014–2019, patients with ATTR-associated cardiomyopathy and/or unexplained progressive polyneuropathies were screened for mutations in the TTR gene. Results: We identified 43 cases from 22 families carrying 10 different TTR missense mutations and confirmed two mutational hot spots at c.323A>G (p.His108Arg) and c.337G>C (p.Val113Leu). Two further patients with late onset ATTR carried TTR variants of unknown significance. The majority of patients initially presented with heart failure symptoms that were subsequently accompanied by progressive polyneuropathy in most cases. A total of 55% had a history of carpal tunnel syndrome before the onset of other organ manifestations. Conclusions: Our study underlined the relevance of hATTR in the pathogenesis of amyloid-driven cardiomyopathy and axonal polyneuropathy and indicated considerable genetic heterogeneity of this disease in the Austrian population. The estimated prevalence of hATTR in Austria based on this study is 1:200,000 but a potentially higher number of unknown cases must be taken into account. With respect to new therapeutic approaches, we strongly propose genetic testing of the TTR gene in an extended cohort of patients with unexplained heart failure and progressive polyneuropathy.

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