Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

TCC também é notícia: estudo de caso da Agência Experimental de Divulgação Científica da Universidade Municipal de São Caetano do Sul (USCS)

Artigo apresentado em congresso nacional de comunicação

Relation between Tcc,bb and Xc,b from QCD.

We have studied, using double ratio of QCD (spectral) sum rules, the ratio between the masses of Tcc and X(3872) assuming that they are respectively described by the D−D∗ and D− ¯D∗ molecular currents. We found (within our approximation) that the masses of these two states are almost degenerate. Since the pion exchange interaction between these mesons is exactly the same, we conclude that if the observed X(3872) meson is a D ¯D∗ + c.c. molecule, then the DD∗ molecule should also exist with approximately the same mass. An extension of the analysis to the b-quark case leads to the same conclusion. We also study the SU(3) breakings for the T s Q Q /TQ Q mass ratios. Motivated by the recent Belle observation of two Zb states, we revise our determination of Xb by combining results from exponential and FESR sum rules.

Organizational maintenance : telelphone terminal AN/TCC-7.

"April 1958."

Telephone repeater AN/TCC-8 and telephone repeater AN/TCC-21, organizational maintenance.

"March 1958."

Direct support and general support maintenance manual (including repair parts and special tools list) : converters, telegraph-telephone signal CV-425/U, (part of terminal telegraph-telephone AN/TCC-29).

Includes index.

Organizational, direct support, and general support maintenance repair parts and special tools lists (including depot maintenance repair parts and special tools) for terminal sets, telephone AN/TCC-69 (NSN 5805-00-089-6253) and AN/TCC-60 (5805-00-877-8740).

Includes index.

Operator's, organizational, direct support, and general support maintenance manual : telephone terminal sets AN/TCC-73(V)1, (NSN 5805-00-134-5405), AN/TCC-73(V)2, (NSN 5805-00-134-5404), AN/TCC-73A(V)1, (NSN 5805-01-102-0185) and AN/TCC-73A(V)2, (NSN 5805-01-135-7070) in shelter, electrical equipment S-419B/TCC-73(V), (NSN 5410-01-098-2393).

"29 April 1983."

Organizational, direct support, and general support maintenance repair parts and special tools lists (including depot maintenance repair parts and special tools) for terminal set, telephone AN/TCC-72, (NSN 5805-00-133-9003).

Includes index.

Hand receipt covering contents of Components of End Item (COEI), Basic Issue Items (BII), and Additional Authorization List (AAL) for telephone terminal sets AN/TCC-73(V)1, (NSN 5805-00-135-5405) ... and AN/TCC-73A(V)2, (NSN 5805-01-135-7070) in shelter, electrical equipment S-419B/TCC-73(V), (NSN 5410-01-098-2393).

"21 September 1983."

Organizational maintenance repair parts and special tools lists for terminal set, telephone AN/TCC-65 (NSN 5805-00-868-8215).

Includes index.